Linked Data
dbSNP Id:
rs1557844310
gnomAD v2:
1-113460462-CAGCAGTTTAGT-C
gnomAD v4:
1-112917840-CAGCAGTTTAGT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.112917845_112917855del , CM000663.2:g.112917845_112917855del | GRCh38 |
| NC_000001.10:g.113460467_113460477del , CM000663.1:g.113460467_113460477del | GRCh37 |
| NC_000001.9:g.113261990_113262000del | NCBI36 |
| NG_015880.2:g.43078_43088del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369626.8:c.555_565del MANE Select | ENSP00000358640.4:p.Leu186CysfsTer20 | |
| ENST00000429288.2:c.555_565del | ENSP00000397106.2:p.Leu186CysfsTer20 | |
| ENST00000443580.6:c.555_565del | ENSP00000399104.2:p.Leu186CysfsTer20 | |
| ENST00000458229.6:c.555_565del | ENSP00000416167.2:p.Leu186CysfsTer20 | |
| ENST00000679803.1:c.555_565del | ENSP00000505879.1:p.Leu186CysfsTer20 | |
| ENST00000679846.1:n.1472_1482del | ||
| ENST00000369626.7:c.555_565del | ENSP00000358640.3:p.Leu186CysfsTer20 | |
| ENST00000429288.1:c.555_565del | ENSP00000397106.1:p.Leu186CysfsTer20 | |
| ENST00000443580.5:c.555_565del | ENSP00000399104.1:p.Leu186CysfsTer20 | |
| ENST00000458229.5:c.555_565del | ENSP00000416167.1:p.Leu186CysfsTer20 | |
| ENST00000538576.5:c.555_565del | ENSP00000441065.1:p.Leu186CysfsTer20 | |
| NM_001166496.1:c.555_565del | NP_001159968.1:p.Leu186CysfsTer20 | |
| NM_003051.3:c.555_565del | NP_003042.3:p.Leu186CysfsTer20 | |
| XM_011542026.1:c.555_565del | XP_011540328.1:p.Leu186CysfsTer20 | |
| XM_011542027.1:c.555_565del | XP_011540329.1:p.Leu186CysfsTer20 | |
| NM_003051.4:c.555_565del MANE Select | NP_003042.3:p.Leu186CysfsTer20 | |
| NM_001166496.2:c.555_565del | NP_001159968.1:p.Leu186CysfsTer20 |