HGVS | Genome Assembly |
---|---|
NC_000023.11:g.134475259del , CM000685.2:g.134475259del | GRCh38 |
NC_000023.10:g.133609289del , CM000685.1:g.133609289del | GRCh37 |
NC_000023.9:g.133436955del | NCBI36 |
NG_012329.1:g.20115del | |
NG_012329.2:g.20115del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000298556.8:c.213del MANE Select | ENSP00000298556.7:p.Tyr72IlefsTer14 | |
ENST00000298556.7:c.213del | ENSP00000298556.7:p.Tyr72IlefsTer14 | |
ENST00000462974.5:n.371del | ||
ENST00000475720.1:n.171del | ||
NM_000194.2:c.213del | NP_000185.1:p.Tyr72IlefsTer14 | |
XM_011531328.1:c.231del | XP_011529630.1:p.Tyr78IlefsTer14 | |
NM_000194.3:c.213del MANE Select | NP_000185.1:p.Tyr72IlefsTer14 |