Linked Data
dbSNP Id:
rs755154362
ExAC:
4:88533729 AT / A
gnomAD v2:
4-88533729-AT-A
gnomAD v3:
4-87612577-AT-A
gnomAD v4:
4-87612577-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.87612578del , CM000666.2:g.87612578del | GRCh38 |
| NC_000004.11:g.88533730del , CM000666.1:g.88533730del | GRCh37 |
| NC_000004.10:g.88752754del | NCBI36 |
| NG_011595.1:g.9050del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651931.1:c.392del MANE Select | ENSP00000498766.1:p.Ile131ThrfsTer10 | |
| ENST00000282478.7:c.392del | ENSP00000282478.7:p.Ile131ThrfsTer10 | |
| ENST00000399271.5:c.392del | ENSP00000382213.1:p.Ile131ThrfsTer10 | |
| NM_014208.3:c.392del MANE Select | NP_055023.2:p.Ile131ThrfsTer10 |