Linked Data
ClinVar Variation Id:
291848
ClinVar RCV Id:
RCV000397104
dbSNP Id:
rs886045066
gnomAD v3:
1-112913755-C-CAAA
gnomAD v4:
1-112913755-C-CAAA
MyVariant Identifiers:
chr1:g.113456377_113456378insAAA (hg19)
chr1:g.112913755_112913756insAAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.112913757_112913758insAAA , CM000663.2:g.112913757_112913758insAAA | GRCh38 |
| NC_000001.10:g.113456379_113456380insAAA , CM000663.1:g.113456379_113456380insAAA | GRCh37 |
| NC_000001.9:g.113257902_113257903insAAA | NCBI36 |
| NG_015880.2:g.47173_47174insTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369626.8:c.*135_*136insTTT MANE Select | ENSP00000358640.4:n.*135_*136insTTT | |
| ENST00000429288.2:c.*135_*136insTTT | ENSP00000397106.2:n.*135_*136insTTT | |
| ENST00000443580.6:c.*135_*136insTTT | ENSP00000399104.2:n.*135_*136insTTT | |
| ENST00000458229.6:c.*135_*136insTTT | ENSP00000416167.2:n.*135_*136insTTT | |
| ENST00000679803.1:c.*135_*136insTTT | ENSP00000505879.1:n.*135_*136insTTT | |
| ENST00000369626.7:c.*135_*136insTTT | ENSP00000358640.3:n.*135_*136insTTT | |
| ENST00000538576.5:c.*135_*136insTTT | ENSP00000441065.1:n.*135_*136insTTT | |
| NM_001166496.1:c.*135_*136insTTT | NP_001159968.1:n.*135_*136insTTT | |
| NM_003051.3:c.*135_*136insTTT | NP_003042.3:n.*135_*136insTTT | |
| XM_011542026.1:c.*135_*136insTTT | XP_011540328.1:n.*135_*136insTTT | |
| XM_011542027.1:c.*135_*136insTTT | XP_011540329.1:n.*135_*136insTTT | |
| NM_003051.4:c.*135_*136insTTT MANE Select | NP_003042.3:n.*135_*136insTTT | |
| NM_001166496.2:c.*135_*136insTTT | NP_001159968.1:n.*135_*136insTTT |