HGVS | Genome Assembly |
---|---|
NC_000005.10:g.80675102_80675103del , CM000667.2:g.80675102_80675103del | GRCh38 |
NC_000005.9:g.79970921_79970922del , CM000667.1:g.79970921_79970922del | GRCh37 |
NC_000005.8:g.80006677_80006678del | NCBI36 |
NG_016607.1:g.25628_25629del | |
NG_016607.2:g.25628_25629del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000265081.7:c.1147_1148del MANE Select | ENSP00000265081.6:p.Lys383GlyfsTer20 | |
ENST00000658259.1:c.979_980del | ENSP00000499617.1:p.Lys327GlyfsTer20 | |
ENST00000667069.1:c.1147_1148del | ENSP00000499502.1:p.Lys383GlyfsTer20 | |
ENST00000670357.1:c.1147_1148del | ENSP00000499791.1:p.Lys383GlyfsTer20 | |
ENST00000265081.6:c.1147_1148del | ENSP00000265081.6:p.Lys383GlyfsTer20 | |
NM_002439.4:c.1147_1148del | NP_002430.3:p.Lys383GlyfsTer20 | |
NM_002439.5:c.1147_1148del MANE Select | NP_002430.3:p.Lys383GlyfsTer20 |