HGVS | Genome Assembly |
---|---|
NC_000023.11:g.8731905del , CM000685.2:g.8731905del | GRCh38 |
NC_000023.10:g.8699946del , CM000685.1:g.8699946del | GRCh37 |
NC_000023.9:g.8659946del | NCBI36 |
NG_007088.1:g.5283del | |
NG_007088.2:g.5283del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000262648.8:c.133del MANE Select | ENSP00000262648.3:p.Gln45SerfsTer10 | |
ENST00000262648.7:c.133del | ENSP00000262648.3:p.Gln45SerfsTer10 | |
ENST00000619786.1:c.131del | ENSP00000478734.1:p.Pro44GlnfsTer10 | |
NM_000216.2:c.133del | NP_000207.2:p.Gln45SerfsTer10 | |
XM_005274501.3:c.133del | XP_005274558.1:p.Gln45SerfsTer10 | |
NM_000216.3:c.133del | NP_000207.2:p.Gln45SerfsTer10 | |
XM_005274501.4:c.133del | XP_005274558.1:p.Gln45SerfsTer10 | |
NM_000216.4:c.133del MANE Select | NP_000207.2:p.Gln45SerfsTer10 |