HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154997062del , CM000685.2:g.154997062del | GRCh38 |
NC_000023.10:g.154225337del , CM000685.1:g.154225337del | GRCh37 |
NC_000023.9:g.153878531del | NCBI36 |
NG_011403.1:g.30662del | |
NG_011403.2:g.30662del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360256.9:c.299del MANE Select | ENSP00000353393.4:p.Tyr100LeufsTer? | |
ENST00000647125.1:c.*85del | ENSP00000496062.1:n.*85del | |
ENST00000360256.8:c.299del | ENSP00000353393.4:p.Tyr100LeufsTer? | |
ENST00000423959.5:c.194del | ENSP00000409446.1:p.Tyr65LeufsTer? | |
ENST00000453950.1:c.281del | ENSP00000389153.1:p.Tyr94LeufsTer? | |
NM_000132.3:c.299del | NP_000123.1:p.Tyr100LeufsTer? | |
XM_011531126.1:c.194del | XP_011529428.1:p.Tyr65LeufsTer? | |
NM_000132.4:c.299del MANE Select | NP_000123.1:p.Tyr100LeufsTer? |