Linked Data
ClinVar Variation Id:
420197
ClinVar RCV Id:
RCV000479018
dbSNP Id:
rs1064794342
gnomAD v4:
16-57903850-CTCGT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57903851_57903854del , CM000678.2:g.57903851_57903854del | GRCh38 |
| NC_000016.9:g.57937755_57937758del , CM000678.1:g.57937755_57937758del | GRCh37 |
| NC_000016.8:g.56495256_56495259del | NCBI36 |
| NG_016351.1:g.72263_72266del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251102.13:c.2762_2765del MANE Select | ENSP00000251102.8:p.Tyr921CysfsTer15 | |
| ENST00000251102.12:c.2762_2765del | ENSP00000251102.8:p.Tyr921CysfsTer15 | |
| ENST00000564448.5:c.2744_2747del | ENSP00000454633.1:p.Tyr915CysfsTer15 | |
| ENST00000569643.1:n.419_422del | ||
| NM_001286130.1:c.2744_2747del | NP_001273059.1:p.Tyr915CysfsTer15 | |
| NM_001297.4:c.2762_2765del | NP_001288.3:p.Tyr921CysfsTer15 | |
| XM_006721134.2:c.2762_2765del | XP_006721197.1:p.Tyr921CysfsTer15 | |
| XM_011522870.1:c.1613_1616del | XP_011521172.1:p.Tyr538CysfsTer15 | |
| XM_011522870.2:c.1613_1616del | XP_011521172.1:p.Tyr538CysfsTer15 | |
| NM_001286130.2:c.2744_2747del | NP_001273059.1:p.Tyr915CysfsTer15 | |
| NM_001297.5:c.2762_2765del MANE Select | NP_001288.3:p.Tyr921CysfsTer15 |