Linked Data
ClinVar Variation Id:
101332
ClinVar RCV Id:
RCV000087570
dbSNP Id:
rs587779612
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188994037_188994054delinsCCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACC , CM000664.2:g.188994037_188994054delinsCCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACC | GRCh38 |
| NC_000002.11:g.189858763_189858780delinsCCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACC , CM000664.1:g.189858763_189858780delinsCCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACC | GRCh37 |
| NC_000002.10:g.189567008_189567025delinsCCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACC | NCBI36 |
| NG_007404.1:g.24665_24682delinsCCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACC , LRG_3:g.24665_24682delinsCCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450867.2:c.1051-1_1067delinsCCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACC | ||
| ENST00000304636.9:c.1150-1_1166delinsCCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACC | ||
| ENST00000304636.7:c.1150-1_1166delinsCCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACC | ||
| ENST00000317840.9:c.1150-1_1166delinsCCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACC | ||
| ENST00000450867.1:c.149-1_165delinsCCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACC | ||
| NM_000090.3:c.1150-1_1166delinsCCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACC , LRG_3t1:c.1150-1_1166delinsCCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACC | ||
| NM_000090.4:c.1150-1_1166delinsCCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACC |