Linked Data
ClinVar Variation Id:
1073794
ClinVar RCV Id:
RCV001386899
dbSNP Id:
rs2110212747
gnomAD v4:
4-99583495-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99583497del , CM000666.2:g.99583497del | GRCh38 |
| NC_000004.11:g.100504654del , CM000666.1:g.100504654del | GRCh37 |
| NC_000004.10:g.100723677del | NCBI36 |
| NG_011469.1:g.24415del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265517.10:c.373del MANE Select | ENSP00000265517.5:p.Leu125PhefsTer3 | |
| ENST00000457717.6:c.373del | ENSP00000400821.1:p.Leu125PhefsTer3 | |
| ENST00000511045.6:c.124del | ENSP00000427679.2:p.Leu42PhefsTer3 | |
| ENST00000265517.9:c.373del | ENSP00000265517.5:p.Leu125PhefsTer3 | |
| ENST00000422897.6:c.373del | ENSP00000407350.2:p.Leu125PhefsTer3 | |
| ENST00000457717.5:c.373del | ENSP00000400821.1:p.Leu125PhefsTer3 | |
| ENST00000506883.5:c.403del | ENSP00000426755.1:p.Leu135PhefsTer3 | |
| ENST00000511045.5:c.454del | ENSP00000427679.1:p.Leu152PhefsTer3 | |
| ENST00000619629.1:c.373del | ENSP00000482850.1:p.Leu125PhefsTer3 | |
| NM_000253.3:c.373del | NP_000244.2:p.Leu125PhefsTer3 | |
| NM_001300785.1:c.454del | NP_001287714.1:p.Leu152PhefsTer3 | |
| NM_000253.4:c.373del | NP_000244.2:p.Leu125PhefsTer3 | |
| NM_001300785.2:c.124del | NP_001287714.2:p.Leu42PhefsTer3 | |
| NM_001386140.1:c.373del MANE Select | NP_001373069.1:p.Leu125PhefsTer3 |