Linked Data
ClinVar Variation Id:
425188
ClinVar RCV Id:
RCV000487505
dbSNP Id:
rs1064797244
gnomAD v4:
19-40395008-GC-G
COSMIC:
COSM4718299
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40395013del , CM000681.2:g.40395013del | GRCh38 |
| NC_000019.9:g.40900920del , CM000681.1:g.40900920del | GRCh37 |
| NC_000019.8:g.45592760del | NCBI36 |
| NG_007979.1:g.23356del , LRG_265:g.23356del | |
| NG_051224.1:g.213del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000324001.8:c.3343del MANE Select | ENSP00000326018.6:p.Ala1115LeufsTer12 | |
| ENST00000673881.1:c.2926del | ENSP00000501070.1:p.Ala976LeufsTer12 | |
| ENST00000674005.2:c.3628del | ENSP00000501261.1:p.Ala1210LeufsTer12 | |
| ENST00000674773.1:c.2926del | ENSP00000502579.1:p.Ala976LeufsTer12 | |
| ENST00000675517.1:c.3218del | ||
| ENST00000676076.1:c.3204del | ||
| ENST00000676260.1:c.3305del | ||
| ENST00000676316.1:c.3230del | ||
| ENST00000291825.11:c.*3548del | ENSP00000291825.6:n.*3548del | |
| ENST00000324001.7:c.3343del | ENSP00000326018.6:p.Ala1115LeufsTer12 | |
| NM_020956.2:c.*3548del , LRG_265t1:c.*3548del | NP_066007.1:n.*3548del | |
| NM_181882.2:c.3343del , LRG_265t2:c.3343del | NP_870998.2:p.Ala1115LeufsTer12 | |
| XM_011527171.1:c.3343del | XP_011525473.1:p.Ala1115LeufsTer12 | |
| XM_011527171.2:c.3343del | XP_011525473.1:p.Ala1115LeufsTer12 | |
| XM_017027046.1:c.3241del | XP_016882535.1:p.Ala1081LeufsTer12 | |
| XM_017027047.1:c.3241del | XP_016882536.1:p.Ala1081LeufsTer12 | |
| NM_181882.3:c.3343del MANE Select | NP_870998.2:p.Ala1115LeufsTer12 |