HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159323227del , CM000667.2:g.159323227del | GRCh38 |
NC_000005.9:g.158750235del , CM000667.1:g.158750235del | GRCh37 |
NC_000005.8:g.158682813del | NCBI36 |
NG_009618.1:g.12247del , LRG_71:g.12247del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696750.1:c.-148-2707del | ENSP00000512849.1:n.-148-2707del | |
ENST00000696751.1:c.191del | ENSP00000512850.1:p.Gln64ArgfsTer6 | |
ENST00000231228.3:c.191del MANE Select | ENSP00000231228.2:p.Gln64ArgfsTer6 | |
ENST00000231228.2:c.191del | ENSP00000231228.2:p.Gln64ArgfsTer6 | |
NM_002187.2:c.191del , LRG_71t1:c.191del | NP_002178.2:p.Gln64ArgfsTer6 | |
XR_001742945.1:n.148-2307del | ||
NM_002187.3:c.191del MANE Select | NP_002178.2:p.Gln64ArgfsTer6 |