HGVS | Genome Assembly |
---|---|
NC_000007.14:g.152675690_152675692del , CM000669.2:g.152675690_152675692del | GRCh38 |
NC_000007.13:g.152372775_152372777del , CM000669.1:g.152372775_152372777del | GRCh37 |
NC_000007.12:g.152003708_152003710del | NCBI36 |
NG_027988.1:g.5474_5476del | |
NG_027988.2:g.5474_5476del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000698506.1:c.-48+349_-48+351del | ENSP00000513758.1:n.-48+349_-48+351del | |
ENST00000698507.1:n.107+349_107+351del | ||
ENST00000359321.2:c.39+349_39+351del MANE Select | ENSP00000352271.1:n.39+349_39+351del | |
ENST00000359321.1:c.39+349_39+351del | ENSP00000352271.1:n.39+349_39+351del | |
NM_005431.1:c.39+349_39+351del | NP_005422.1:n.39+349_39+351del | |
NM_005431.2:c.39+349_39+351del MANE Select | NP_005422.1:n.39+349_39+351del |