Linked Data
ClinVar Variation Id:
1981232
ClinVar RCV Id:
RCV002751354
dbSNP Id:
rs1349783198
gnomAD v3:
1-112917720-GCAT-G
gnomAD v4:
1-112917720-GCAT-G
MyVariant Identifiers:
chr1:g.112917721_112917723del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.112917724_112917726del , CM000663.2:g.112917724_112917726del | GRCh38 |
| NC_000001.10:g.113460346_113460348del , CM000663.1:g.113460346_113460348del | GRCh37 |
| NC_000001.9:g.113261869_113261871del | NCBI36 |
| NG_015880.2:g.43206_43208del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369626.8:c.683_685del MANE Select | ENSP00000358640.4:p.Asp228del | |
| ENST00000429288.2:c.683_685del | ENSP00000397106.2:p.Asp228del | |
| ENST00000443580.6:c.683_685del | ENSP00000399104.2:p.Asp228del | |
| ENST00000458229.6:c.683_685del | ENSP00000416167.2:p.Asp228del | |
| ENST00000679803.1:c.683_685del | ENSP00000505879.1:p.Asp228del | |
| ENST00000679846.1:n.1600_1602del | ||
| ENST00000369626.7:c.683_685del | ENSP00000358640.3:p.Asp228del | |
| ENST00000443580.5:c.683_685del | ENSP00000399104.1:p.Asp228del | |
| ENST00000458229.5:c.683_685del | ENSP00000416167.1:p.Asp228del | |
| ENST00000538576.5:c.683_685del | ENSP00000441065.1:p.Asp228del | |
| NM_001166496.1:c.683_685del | NP_001159968.1:p.Asp228del | |
| NM_003051.3:c.683_685del | NP_003042.3:p.Asp228del | |
| XM_011542026.1:c.683_685del | XP_011540328.1:p.Asp228del | |
| XM_011542027.1:c.683_685del | XP_011540329.1:p.Asp228del | |
| NM_003051.4:c.683_685del MANE Select | NP_003042.3:p.Asp228del | |
| NM_001166496.2:c.683_685del | NP_001159968.1:p.Asp228del |