Linked Data
dbSNP Id:
rs768801751
ExAC:
4:100239220 AC / A
gnomAD v2:
4-100239220-AC-A
gnomAD v3:
4-99318063-AC-A
gnomAD v4:
4-99318063-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99318067del , CM000666.2:g.99318067del | GRCh38 |
| NC_000004.11:g.100239224del , CM000666.1:g.100239224del | GRCh37 |
| NC_000004.10:g.100458247del | NCBI36 |
| NG_011435.1:g.8352del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000305046.13:c.241del MANE Select | ENSP00000306606.8:p.Val81Ter | |
| ENST00000639454.1:c.241del | ENSP00000491622.1:p.Val81Ter | |
| ENST00000305046.12:c.241del | ENSP00000306606.8:p.Val81Ter | |
| ENST00000504498.1:n.295del | ||
| ENST00000506651.5:c.121del | ENSP00000425998.2:p.Val41Ter | |
| ENST00000515694.4:n.2336del | ||
| ENST00000625860.2:c.121del | ENSP00000486614.1:p.Val41Ter | |
| ENST00000632775.1:n.804del | ||
| NM_000668.5:c.241del | NP_000659.2:p.Val81Ter | |
| NM_001286650.1:c.121del | NP_001273579.1:p.Val41Ter | |
| NM_000668.6:c.241del MANE Select | NP_000659.2:p.Val81Ter | |
| NM_001286650.2:c.121del | NP_001273579.1:p.Val41Ter |