HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94775428del , CM000672.2:g.94775428del | GRCh38 |
NC_000010.10:g.96535185del , CM000672.1:g.96535185del | GRCh37 |
NC_000010.9:g.96525175del | NCBI36 |
NG_008384.2:g.17723del | |
NG_008384.3:g.17748del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371321.9:c.370del MANE Select | ENSP00000360372.3:p.Arg124GlyfsTer6 | |
ENST00000645461.1:n.1423del | ||
ENST00000371321.7:c.370del | ENSP00000360372.3:p.Arg124GlyfsTer6 | |
ENST00000464755.1:c.1133del | ENSP00000483243.1:n.1133del | |
ENST00000480405.2:c.370del | ENSP00000483847.1:p.Arg124GlyfsTer6 | |
NM_000769.2:c.370del | NP_000760.1:p.Arg124GlyfsTer6 | |
NM_000769.4:c.370del MANE Select | NP_000760.1:p.Arg124GlyfsTer6 |