HGVS | Genome Assembly |
---|---|
NC_000003.12:g.81646479del , CM000665.2:g.81646479del | GRCh38 |
NC_000003.11:g.81695630del , CM000665.1:g.81695630del | GRCh37 |
NC_000003.10:g.81778320del | NCBI36 |
NG_011810.1:g.120322del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000429644.7:c.695del MANE Select | ENSP00000410833.2:p.Tyr232SerfsTer6 | |
ENST00000429644.6:c.695del | ENSP00000410833.2:p.Tyr232SerfsTer6 | |
ENST00000489715.1:c.572del | ENSP00000419638.1:p.Tyr191SerfsTer6 | |
ENST00000498468.1:n.245del | ||
NM_000158.3:c.695del | NP_000149.3:p.Tyr232SerfsTer6 | |
NM_000158.4:c.695del MANE Select | NP_000149.4:p.Tyr232SerfsTer6 |