Linked Data
gnomAD v4:
6-31270367-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270368del , CM000668.2:g.31270368del | GRCh38 |
| NC_000006.11:g.31238145del , CM000668.1:g.31238145del | GRCh37 |
| NC_000006.10:g.31346124del | NCBI36 |
| NG_029422.2:g.6764del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.737del MANE Select | ENSP00000365402.5:p.Glu246GlyfsTer? | |
| ENST00000376228.9:c.737del | ENSP00000365402.5:p.Glu246GlyfsTer? | |
| ENST00000376237.8:c.*324del | ENSP00000365412.4:n.*324del | |
| ENST00000383329.7:c.737del | ENSP00000372819.3:p.Glu246GlyfsTer? | |
| ENST00000415537.1:c.665-37del | ||
| ENST00000470363.5:n.55del | ||
| ENST00000487245.5:n.1096del | ||
| ENST00000495835.1:n.926del | ||
| NM_002117.5:c.737del | NP_002108.4:p.Glu246GlyfsTer? | |
| NM_002117.6:c.737del MANE Select | NP_002108.4:p.Glu246GlyfsTer? |