HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48459723del , CM000675.2:g.48459723del | GRCh38 |
NC_000013.10:g.49033859del , CM000675.1:g.49033859del | GRCh37 |
NC_000013.9:g.47931860del | NCBI36 |
NG_009009.1:g.160977del , LRG_517:g.160977del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000267163.6:c.1996del MANE Select | ENSP00000267163.4:p.Cys666ValfsTer11 | |
ENST00000643064.1:c.194+78280del | ||
ENST00000650461.1:c.1996del | ENSP00000497193.1:p.Cys666ValfsTer11 | |
ENST00000267163.4:c.1996del | ENSP00000267163.4:p.Cys666ValfsTer11 | |
NM_000321.2:c.1996del , LRG_517t1:c.1996del | NP_000312.2:p.Cys666ValfsTer11 | |
XM_011535171.1:c.1735del | XP_011533473.1:p.Cys579ValfsTer11 | |
XM_011535171.2:c.1735del | XP_011533473.1:p.Cys579ValfsTer11 | |
NM_000321.3:c.1996del MANE Select | NP_000312.2:p.Cys666ValfsTer11 |