WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1219411_1219877delinsCGGGTGCGTGCGCGGGGCAGGGGCCAGGGTGGGGCGGGGGCCGGGGGCCAGGCAGGGCAGGCTCCTTTCCGTGAGGCCACACTGCTTGTCCTGATATTCATTGACATGAAGGCCCAAGTTTTTTTGTTTTTTTGTTTTTTTGTGTTTTTTTTCGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCGAGGTTCACGCCATTCTTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAAACTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCACGCCCGGCCTTGTAAAGGCCCAAGTTTTTAAAAACAGTTTTG , CM000681.2:g.1219411_1219877delinsCGGGTGCGTGCGCGGGGCAGGGGCCAGGGTGGGGCGGGGGCCGGGGGCCAGGCAGGGCAGGCTCCTTTCCGTGAGGCCACACTGCTTGTCCTGATATTCATTGACATGAAGGCCCAAGTTTTTTTGTTTTTTTGTTTTTTTGTGTTTTTTTTCGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCGAGGTTCACGCCATTCTTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAAACTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCACGCCCGGCCTTGTAAAGGCCCAAGTTTTTAAAAACAGTTTTG | GRCh38 |
| NC_000019.9:g.1219410_1219876delinsCGGGTGCGTGCGCGGGGCAGGGGCCAGGGTGGGGCGGGGGCCGGGGGCCAGGCAGGGCAGGCTCCTTTCCGTGAGGCCACACTGCTTGTCCTGATATTCATTGACATGAAGGCCCAAGTTTTTTTGTTTTTTTGTTTTTTTGTGTTTTTTTTCGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCGAGGTTCACGCCATTCTTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAAACTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCACGCCCGGCCTTGTAAAGGCCCAAGTTTTTAAAAACAGTTTTG , CM000681.1:g.1219410_1219876delinsCGGGTGCGTGCGCGGGGCAGGGGCCAGGGTGGGGCGGGGGCCGGGGGCCAGGCAGGGCAGGCTCCTTTCCGTGAGGCCACACTGCTTGTCCTGATATTCATTGACATGAAGGCCCAAGTTTTTTTGTTTTTTTGTTTTTTTGTGTTTTTTTTCGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCGAGGTTCACGCCATTCTTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAAACTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCACGCCCGGCCTTGTAAAGGCCCAAGTTTTTAAAAACAGTTTTG | GRCh37 |
| NC_000019.8:g.1170410_1170876delinsCGGGTGCGTGCGCGGGGCAGGGGCCAGGGTGGGGCGGGGGCCGGGGGCCAGGCAGGGCAGGCTCCTTTCCGTGAGGCCACACTGCTTGTCCTGATATTCATTGACATGAAGGCCCAAGTTTTTTTGTTTTTTTGTTTTTTTGTGTTTTTTTTCGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCGAGGTTCACGCCATTCTTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAAACTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCACGCCCGGCCTTGTAAAGGCCCAAGTTTTTAAAAACAGTTTTG | NCBI36 |
| NG_007460.2:g.35005_35471delinsCGGGTGCGTGCGCGGGGCAGGGGCCAGGGTGGGGCGGGGGCCGGGGGCCAGGCAGGGCAGGCTCCTTTCCGTGAGGCCACACTGCTTGTCCTGATATTCATTGACATGAAGGCCCAAGTTTTTTTGTTTTTTTGTTTTTTTGTGTTTTTTTTCGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCGAGGTTCACGCCATTCTTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAAACTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCACGCCCGGCCTTGTAAAGGCCCAAGTTTTTAAAAACAGTTTTG , LRG_319:g.35005_35471delinsCGGGTGCGTGCGCGGGGCAGGGGCCAGGGTGGGGCGGGGGCCGGGGGCCAGGCAGGGCAGGCTCCTTTCCGTGAGGCCACACTGCTTGTCCTGATATTCATTGACATGAAGGCCCAAGTTTTTTTGTTTTTTTGTTTTTTTGTGTTTTTTTTCGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCGAGGTTCACGCCATTCTTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAAACTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCACGCCCGGCCTTGTAAAGGCCCAAGTTTTTAAAAACAGTTTTG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000585465.3:c.462_464+464delinsCGGGTGCGTGCGCGGGGCAGGGGCCAGGGTGGGGCGGGGGCCGGGGGCCAGGCAGGGCAGGCTCCTTTCCGTGAGGCCACACTGCTTGTCCTGATATTCATTGACATGAAGGCCCAAGTTTTTTTGTTTTTTTGTTTTTTTGTGTTTTTTTTCGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCGAGGTTCACGCCATTCTTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAAACTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCACGCCCGGCCTTGTAAAGGCCCAAGTTTTTAAAAACAGTTTTG | ||
| ENST00000585748.3:c.90_92+464delinsCGGGTGCGTGCGCGGGGCAGGGGCCAGGGTGGGGCGGGGGCCGGGGGCCAGGCAGGGCAGGCTCCTTTCCGTGAGGCCACACTGCTTGTCCTGATATTCATTGACATGAAGGCCCAAGTTTTTTTGTTTTTTTGTTTTTTTGTGTTTTTTTTCGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCGAGGTTCACGCCATTCTTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAAACTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCACGCCCGGCCTTGTAAAGGCCCAAGTTTTTAAAAACAGTTTTG | ||
| ENST00000585851.2:c.291-962_291-496delinsCGGGTGCGTGCGCGGGGCAGGGGCCAGGGTGGGGCGGGGGCCGGGGGCCAGGCAGGGCAGGCTCCTTTCCGTGAGGCCACACTGCTTGTCCTGATATTCATTGACATGAAGGCCCAAGTTTTTTTGTTTTTTTGTTTTTTTGTGTTTTTTTTCGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCGAGGTTCACGCCATTCTTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAAACTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCACGCCCGGCCTTGTAAAGGCCCAAGTTTTTAAAAACAGTTTTG | ENSP00000467912.2:n.291-962_291-496delins... | |
| ENST00000326873.12:c.462_464+464delinsCGGGTGCGTGCGCGGGGCAGGGGCCAGGGTGGGGCGGGGGCCGGGGGCCAGGCAGGGCAGGCTCCTTTCCGTGAGGCCACACTGCTTGTCCTGATATTCATTGACATGAAGGCCCAAGTTTTTTTGTTTTTTTGTTTTTTTGTGTTTTTTTTCGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCGAGGTTCACGCCATTCTTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAAACTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCACGCCCGGCCTTGTAAAGGCCCAAGTTTTTAAAAACAGTTTTG | ||
| ENST00000652231.1:c.462_464+464delinsCGGGTGCGTGCGCGGGGCAGGGGCCAGGGTGGGGCGGGGGCCGGGGGCCAGGCAGGGCAGGCTCCTTTCCGTGAGGCCACACTGCTTGTCCTGATATTCATTGACATGAAGGCCCAAGTTTTTTTGTTTTTTTGTTTTTTTGTGTTTTTTTTCGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCGAGGTTCACGCCATTCTTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAAACTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCACGCCCGGCCTTGTAAAGGCCCAAGTTTTTAAAAACAGTTTTG | ||
| ENST00000326873.11:c.462_464+464delinsCGGGTGCGTGCGCGGGGCAGGGGCCAGGGTGGGGCGGGGGCCGGGGGCCAGGCAGGGCAGGCTCCTTTCCGTGAGGCCACACTGCTTGTCCTGATATTCATTGACATGAAGGCCCAAGTTTTTTTGTTTTTTTGTTTTTTTGTGTTTTTTTTCGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCGAGGTTCACGCCATTCTTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAAACTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCACGCCCGGCCTTGTAAAGGCCCAAGTTTTTAAAAACAGTTTTG | ||
| ENST00000585851.1:c.291-962_291-496delinsCGGGTGCGTGCGCGGGGCAGGGGCCAGGGTGGGGCGGGGGCCGGGGGCCAGGCAGGGCAGGCTCCTTTCCGTGAGGCCACACTGCTTGTCCTGATATTCATTGACATGAAGGCCCAAGTTTTTTTGTTTTTTTGTTTTTTTGTGTTTTTTTTCGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCGAGGTTCACGCCATTCTTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAAACTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCACGCCCGGCCTTGTAAAGGCCCAAGTTTTTAAAAACAGTTTTG | ENSP00000467912.1:n.291-962_291-496delins... | |
| ENST00000586243.5:c.462_464+464delinsCGGGTGCGTGCGCGGGGCAGGGGCCAGGGTGGGGCGGGGGCCGGGGGCCAGGCAGGGCAGGCTCCTTTCCGTGAGGCCACACTGCTTGTCCTGATATTCATTGACATGAAGGCCCAAGTTTTTTTGTTTTTTTGTTTTTTTGTGTTTTTTTTCGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCGAGGTTCACGCCATTCTTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAAACTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCACGCCCGGCCTTGTAAAGGCCCAAGTTTTTAAAAACAGTTTTG | ||
| ENST00000586358.5:n.285_287+464delinsCGGGTGCGTGCGCGGGGCAGGGGCCAGGGTGGGGCGGGGGCCGGGGGCCAGGCAGGGCAGGCTCCTTTCCGTGAGGCCACACTGCTTGTCCTGATATTCATTGACATGAAGGCCCAAGTTTTTTTGTTTTTTTGTTTTTTTGTGTTTTTTTTCGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCGAGGTTCACGCCATTCTTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAAACTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCACGCCCGGCCTTGTAAAGGCCCAAGTTTTTAAAAACAGTTTTG | ||
| ENST00000589152.5:n.552_554+464delinsCGGGTGCGTGCGCGGGGCAGGGGCCAGGGTGGGGCGGGGGCCGGGGGCCAGGCAGGGCAGGCTCCTTTCCGTGAGGCCACACTGCTTGTCCTGATATTCATTGACATGAAGGCCCAAGTTTTTTTGTTTTTTTGTTTTTTTGTGTTTTTTTTCGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCGAGGTTCACGCCATTCTTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAAACTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCACGCCCGGCCTTGTAAAGGCCCAAGTTTTTAAAAACAGTTTTG | ||
| NM_000455.4:c.462_464+464delinsCGGGTGCGTGCGCGGGGCAGGGGCCAGGGTGGGGCGGGGGCCGGGGGCCAGGCAGGGCAGGCTCCTTTCCGTGAGGCCACACTGCTTGTCCTGATATTCATTGACATGAAGGCCCAAGTTTTTTTGTTTTTTTGTTTTTTTGTGTTTTTTTTCGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCGAGGTTCACGCCATTCTTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAAACTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCACGCCCGGCCTTGTAAAGGCCCAAGTTTTTAAAAACAGTTTTG , LRG_319t1:c.462_464+464delinsCGGGTGCGTGCGCGGGGCAGGGGCCAGGGTGGGGCGGGGGCCGGGGGCCAGGCAGGGCAGGCTCCTTTCCGTGAGGCCACACTGCTTGTCCTGATATTCATTGACATGAAGGCCCAAGTTTTTTTGTTTTTTTGTTTTTTTGTGTTTTTTTTCGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCGAGGTTCACGCCATTCTTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAAACTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCACGCCCGGCCTTGTAAAGGCCCAAGTTTTTAAAAACAGTTTTG | ||
| XM_005259617.1:c.462_464+464delinsCGGGTGCGTGCGCGGGGCAGGGGCCAGGGTGGGGCGGGGGCCGGGGGCCAGGCAGGGCAGGCTCCTTTCCGTGAGGCCACACTGCTTGTCCTGATATTCATTGACATGAAGGCCCAAGTTTTTTTGTTTTTTTGTTTTTTTGTGTTTTTTTTCGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCGAGGTTCACGCCATTCTTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAAACTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCACGCCCGGCCTTGTAAAGGCCCAAGTTTTTAAAAACAGTTTTG | ||
| XM_005259618.3:c.462_464+464delinsCGGGTGCGTGCGCGGGGCAGGGGCCAGGGTGGGGCGGGGGCCGGGGGCCAGGCAGGGCAGGCTCCTTTCCGTGAGGCCACACTGCTTGTCCTGATATTCATTGACATGAAGGCCCAAGTTTTTTTGTTTTTTTGTTTTTTTGTGTTTTTTTTCGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCGAGGTTCACGCCATTCTTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAAACTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCACGCCCGGCCTTGTAAAGGCCCAAGTTTTTAAAAACAGTTTTG | ||
| XM_011528209.1:c.240_242+464delinsCGGGTGCGTGCGCGGGGCAGGGGCCAGGGTGGGGCGGGGGCCGGGGGCCAGGCAGGGCAGGCTCCTTTCCGTGAGGCCACACTGCTTGTCCTGATATTCATTGACATGAAGGCCCAAGTTTTTTTGTTTTTTTGTTTTTTTGTGTTTTTTTTCGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCGAGGTTCACGCCATTCTTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAAACTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCACGCCCGGCCTTGTAAAGGCCCAAGTTTTTAAAAACAGTTTTG | ||
| XR_936204.1:n.1087_1089+464delinsCGGGTGCGTGCGCGGGGCAGGGGCCAGGGTGGGGCGGGGGCCGGGGGCCAGGCAGGGCAGGCTCCTTTCCGTGAGGCCACACTGCTTGTCCTGATATTCATTGACATGAAGGCCCAAGTTTTTTTGTTTTTTTGTTTTTTTGTGTTTTTTTTCGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCGAGGTTCACGCCATTCTTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAAACTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCACGCCCGGCCTTGTAAAGGCCCAAGTTTTTAAAAACAGTTTTG | ||
| XM_005259617.3:c.462_464+464delinsCGGGTGCGTGCGCGGGGCAGGGGCCAGGGTGGGGCGGGGGCCGGGGGCCAGGCAGGGCAGGCTCCTTTCCGTGAGGCCACACTGCTTGTCCTGATATTCATTGACATGAAGGCCCAAGTTTTTTTGTTTTTTTGTTTTTTTGTGTTTTTTTTCGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCGAGGTTCACGCCATTCTTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAAACTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCACGCCCGGCCTTGTAAAGGCCCAAGTTTTTAAAAACAGTTTTG | ||
| XM_011528209.2:c.240_242+464delinsCGGGTGCGTGCGCGGGGCAGGGGCCAGGGTGGGGCGGGGGCCGGGGGCCAGGCAGGGCAGGCTCCTTTCCGTGAGGCCACACTGCTTGTCCTGATATTCATTGACATGAAGGCCCAAGTTTTTTTGTTTTTTTGTTTTTTTGTGTTTTTTTTCGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCGAGGTTCACGCCATTCTTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAAACTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCACGCCCGGCCTTGTAAAGGCCCAAGTTTTTAAAAACAGTTTTG | ||
| XR_001753738.2:n.1087_1089+464delinsCGGGTGCGTGCGCGGGGCAGGGGCCAGGGTGGGGCGGGGGCCGGGGGCCAGGCAGGGCAGGCTCCTTTCCGTGAGGCCACACTGCTTGTCCTGATATTCATTGACATGAAGGCCCAAGTTTTTTTGTTTTTTTGTTTTTTTGTGTTTTTTTTCGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCGAGGTTCACGCCATTCTTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAAACTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCACGCCCGGCCTTGTAAAGGCCCAAGTTTTTAAAAACAGTTTTG | ||
| XR_001753739.1:n.1087_1089+464delinsCGGGTGCGTGCGCGGGGCAGGGGCCAGGGTGGGGCGGGGGCCGGGGGCCAGGCAGGGCAGGCTCCTTTCCGTGAGGCCACACTGCTTGTCCTGATATTCATTGACATGAAGGCCCAAGTTTTTTTGTTTTTTTGTTTTTTTGTGTTTTTTTTCGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCGAGGTTCACGCCATTCTTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAAACTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCACGCCCGGCCTTGTAAAGGCCCAAGTTTTTAAAAACAGTTTTG | ||
| XR_001753740.2:n.1087_1089+464delinsCGGGTGCGTGCGCGGGGCAGGGGCCAGGGTGGGGCGGGGGCCGGGGGCCAGGCAGGGCAGGCTCCTTTCCGTGAGGCCACACTGCTTGTCCTGATATTCATTGACATGAAGGCCCAAGTTTTTTTGTTTTTTTGTTTTTTTGTGTTTTTTTTCGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCGAGGTTCACGCCATTCTTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAAACTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCACGCCCGGCCTTGTAAAGGCCCAAGTTTTTAAAAACAGTTTTG | ||
| NM_000455.5:c.462_464+464delinsCGGGTGCGTGCGCGGGGCAGGGGCCAGGGTGGGGCGGGGGCCGGGGGCCAGGCAGGGCAGGCTCCTTTCCGTGAGGCCACACTGCTTGTCCTGATATTCATTGACATGAAGGCCCAAGTTTTTTTGTTTTTTTGTTTTTTTGTGTTTTTTTTCGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCGAGGTTCACGCCATTCTTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAAACTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCACGCCCGGCCTTGTAAAGGCCCAAGTTTTTAAAAACAGTTTTG |