Linked Data
ClinVar Variation Id:
1915
ClinVar RCV Id:
RCV000001992
dbSNP Id:
rs387906265
gnomAD v3:
1-42830984-TGA-T
gnomAD v4:
1-42830984-TGA-T
PubMed:
PMID:12393480
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42830989_42830990del , CM000663.2:g.42830989_42830990del | GRCh38 |
| NC_000001.10:g.43296660_43296661del , CM000663.1:g.43296660_43296661del | GRCh37 |
| NC_000001.9:g.43069247_43069248del | NCBI36 |
| NG_008749.1:g.18885_18886del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372517.8:c.307_308del MANE Select | ENSP00000361595.2:p.Asp103CysfsTer12 | |
| ENST00000487556.6:n.452-4049_452-4048del | ||
| ENST00000642150.1:n.494_495del | ||
| ENST00000647120.1:n.248-4049_248-4048del | ||
| ENST00000328249.3:c.37_38del | ENSP00000332439.3:p.Asp13CysfsTer12 | |
| ENST00000372514.7:c.307_308del | ENSP00000361592.3:p.Asp103CysfsTer12 | |
| ENST00000372517.6:c.307_308del | ENSP00000361595.2:p.Asp103CysfsTer12 | |
| ENST00000487556.5:n.247-4049_247-4048del | ||
| NM_001017922.1:c.307_308del | NP_001017922.1:p.Asp103CysfsTer12 | |
| NM_018538.3:c.307_308del | NP_061008.2:p.Asp103CysfsTer12 | |
| XM_006710313.2:c.307_308del | XP_006710376.1:p.Asp103CysfsTer12 | |
| XM_011540570.1:c.307_308del | XP_011538872.1:p.Asp103CysfsTer12 | |
| XM_011540571.1:c.307_308del | XP_011538873.1:p.Asp103CysfsTer12 | |
| XM_006710313.4:c.307_308del | XP_006710376.1:p.Asp103CysfsTer12 | |
| XM_011540570.3:c.307_308del | XP_011538872.1:p.Asp103CysfsTer12 | |
| XM_011540571.3:c.307_308del | XP_011538873.1:p.Asp103CysfsTer12 | |
| NM_001017922.2:c.307_308del MANE Select | NP_001017922.1:p.Asp103CysfsTer12 | |
| NM_018538.4:c.307_308del | NP_061008.2:p.Asp103CysfsTer12 |