Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013626_25013660delinsCCCGCGTGGACCCGCCGTGGCCGTGGCGGCCGCTG , CM000685.2:g.25013626_25013660delinsCCCGCGTGGACCCGCCGTGGCCGTGGCGGCCGCTG | GRCh38 |
| NC_000023.10:g.25031743_25031777delinsCCCGCGTGGACCCGCCGTGGCCGTGGCGGCCGCTG , CM000685.1:g.25031743_25031777delinsCCCGCGTGGACCCGCCGTGGCCGTGGCGGCCGCTG | GRCh37 |
| NC_000023.9:g.24941664_24941698delinsCCCGCGTGGACCCGCCGTGGCCGTGGCGGCCGCTG | NCBI36 |
| NG_008281.1:g.7289_7323delinsCAGCGGCCGCCACGGCCACGGCGGGTCCACGCGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.335_369delinsCAGCGGCCGCCACGGCCACGGCGGGTCCACGCGGG MANE Select | ENSP00000368332.4:p.Ala112= | |
| ENST00000379044.4:c.335_369delinsCAGCGGCCGCCACGGCCACGGCGGGTCCACGCGGG | ENSP00000368332.4:p.Ala112= | |
| NM_139058.2:c.335_369delinsCAGCGGCCGCCACGGCCACGGCGGGTCCACGCGGG | NP_620689.1:p.Ala112= | |
| NM_139058.3:c.335_369delinsCAGCGGCCGCCACGGCCACGGCGGGTCCACGCGGG MANE Select | NP_620689.1:p.Ala112= |