HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52519817_52519828del , CM000674.2:g.52519817_52519828del | GRCh38 |
NC_000012.11:g.52913601_52913612del , CM000674.1:g.52913601_52913612del | GRCh37 |
NC_000012.10:g.51199868_51199879del | NCBI36 |
NG_008297.1:g.5635_5646del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252242.9:c.472_483del MANE Select | ENSP00000252242.4:p.Asp158_Ile161del | |
ENST00000252242.8:c.472_483del | ENSP00000252242.4:p.Asp158_Ile161del | |
ENST00000549420.1:c.142_153del | ENSP00000447209.1:p.Asp48_Ile51del | |
ENST00000551275.1:c.367_378del | ENSP00000448041.1:p.Asp123_Ile126del | |
ENST00000552629.5:n.570_581del | ||
NM_000424.3:c.472_483del | NP_000415.2:p.Asp158_Ile161del | |
NM_000424.4:c.472_483del MANE Select | NP_000415.2:p.Asp158_Ile161del |