HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7533785_7533786del , CM000681.2:g.7533785_7533786del | GRCh38 |
NC_000019.9:g.7598671_7598672del , CM000681.1:g.7598671_7598672del | GRCh37 |
NC_000019.8:g.7504671_7504672del | NCBI36 |
NG_013374.1:g.4634_4635del | |
NG_015806.1:g.16176_16177del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264079.11:c.1733_1734del MANE Select | ENSP00000264079.5:p.Leu578ArgfsTer29 | |
ENST00000264079.10:c.1733_1734del | ENSP00000264079.5:p.Leu578ArgfsTer29 | |
ENST00000394321.9:n.2048_2049del | ||
ENST00000599334.1:c.461_462del | ||
ENST00000601870.1:c.86_87del | ||
ENST00000602227.1:n.287_288del | ||
NM_020533.2:c.1733_1734del | NP_065394.1:p.Leu578ArgfsTer29 | |
NM_020533.3:c.1733_1734del MANE Select | NP_065394.1:p.Leu578ArgfsTer29 |