HGVS | Genome Assembly |
---|---|
NC_000007.14:g.152675567_152675572del , CM000669.2:g.152675567_152675572del | GRCh38 |
NC_000007.13:g.152372652_152372657del , CM000669.1:g.152372652_152372657del | GRCh37 |
NC_000007.12:g.152003585_152003590del | NCBI36 |
NG_027988.1:g.5594_5599del | |
NG_027988.2:g.5594_5599del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000698506.1:c.-48+469_-48+474del | ENSP00000513758.1:n.-48+469_-48+474del | |
ENST00000698507.1:n.107+469_107+474del | ||
ENST00000359321.2:c.39+469_39+474del MANE Select | ENSP00000352271.1:n.39+469_39+474del | |
ENST00000359321.1:c.39+469_39+474del | ENSP00000352271.1:n.39+469_39+474del | |
NM_005431.1:c.39+469_39+474del | NP_005422.1:n.39+469_39+474del | |
NM_005431.2:c.39+469_39+474del MANE Select | NP_005422.1:n.39+469_39+474del |