HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31271619_31271621del , CM000668.2:g.31271619_31271621del | GRCh38 |
NC_000006.11:g.31239396_31239398del , CM000668.1:g.31239396_31239398del | GRCh37 |
NC_000006.10:g.31347375_31347377del | NCBI36 |
NG_029422.2:g.5515_5517del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000376228.10:c.325_327del MANE Select | ENSP00000365402.5:p.Tyr109del | |
ENST00000376228.9:c.325_327del | ENSP00000365402.5:p.Tyr109del | |
ENST00000376237.8:c.325_327del | ENSP00000365412.4:p.Tyr109del | |
ENST00000383329.7:c.325_327del | ENSP00000372819.3:p.Tyr109del | |
ENST00000415537.1:c.323_325del | ||
ENST00000484378.1:n.344_346del | ||
ENST00000487245.5:n.434_436del | ||
ENST00000495835.1:n.514_516del | ||
NM_002117.5:c.325_327del | NP_002108.4:p.Tyr109del | |
NM_002117.6:c.325_327del MANE Select | NP_002108.4:p.Tyr109del |