Linked Data
dbSNP Id:
rs779505818
ExAC:
6:31238931 G / GTC
gnomAD v2:
6-31238931-G-GTC
gnomAD v3:
6-31271154-G-GTC
gnomAD v4:
6-31271154-G-GTC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271154_31271155insTC , CM000668.2:g.31271154_31271155insTC | GRCh38 |
| NC_000006.11:g.31238931_31238932insTC , CM000668.1:g.31238931_31238932insTC | GRCh37 |
| NC_000006.10:g.31346910_31346911insTC | NCBI36 |
| NG_029422.2:g.5977_5978insGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.537_538insGA MANE Select | ENSP00000365402.5:p.Leu180AspfsTer2 | |
| ENST00000376228.9:c.537_538insGA | ENSP00000365402.5:p.Leu180AspfsTer2 | |
| ENST00000376237.8:c.*124_*125insGA | ENSP00000365412.4:n.*124_*125insGA | |
| ENST00000383329.7:c.537_538insGA | ENSP00000372819.3:p.Leu180AspfsTer2 | |
| ENST00000415537.1:c.535_536insGA | ||
| ENST00000484378.1:n.806_807insGA | ||
| ENST00000487245.5:n.896_897insGA | ||
| ENST00000495835.1:n.726_727insGA | ||
| NM_002117.5:c.537_538insGA | NP_002108.4:p.Leu180AspfsTer2 | |
| NM_002117.6:c.537_538insGA MANE Select | NP_002108.4:p.Leu180AspfsTer2 |