HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240869293_240869296del , CM000664.2:g.240869293_240869296del | GRCh38 |
NC_000002.11:g.241808710_241808713del , CM000664.1:g.241808710_241808713del | GRCh37 |
NC_000002.10:g.241457383_241457386del | NCBI36 |
NG_008005.1:g.5549_5552del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307503.4:c.289_292del MANE Select | ENSP00000302620.3:p.Gly97ThrfsTer22 | |
ENST00000307503.3:c.289_292del | ENSP00000302620.3:p.Gly97ThrfsTer22 | |
ENST00000472436.1:n.309_312del | ||
NM_000030.2:c.289_292del | NP_000021.1:p.Gly97ThrfsTer22 | |
XR_924060.1:n.405+937_405+940del | ||
NM_000030.3:c.289_292del MANE Select | NP_000021.1:p.Gly97ThrfsTer22 |