Linked Data
dbSNP Id:
rs756397003
ExAC:
6:31238910 TGC / T
gnomAD v2:
6-31238910-TGC-T
gnomAD v4:
6-31271133-TGC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271134_31271135del , CM000668.2:g.31271134_31271135del | GRCh38 |
| NC_000006.11:g.31238911_31238912del , CM000668.1:g.31238911_31238912del | GRCh37 |
| NC_000006.10:g.31346890_31346891del | NCBI36 |
| NG_029422.2:g.5997_5998del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.557_558del MANE Select | ENSP00000365402.5:p.Gly186AspfsTer? | |
| ENST00000376228.9:c.557_558del | ENSP00000365402.5:p.Gly186AspfsTer? | |
| ENST00000376237.8:c.*144_*145del | ENSP00000365412.4:n.*144_*145del | |
| ENST00000383329.7:c.557_558del | ENSP00000372819.3:p.Gly186AspfsTer? | |
| ENST00000415537.1:c.555_556del | ||
| ENST00000484378.1:n.826_827del | ||
| ENST00000487245.5:n.916_917del | ||
| ENST00000495835.1:n.746_747del | ||
| NM_002117.5:c.557_558del | NP_002108.4:p.Gly186AspfsTer? | |
| NM_002117.6:c.557_558del MANE Select | NP_002108.4:p.Gly186AspfsTer? |