HGVS | Genome Assembly |
---|---|
NC_000022.11:g.32475045del , CM000684.2:g.32475045del | GRCh38 |
NC_000022.10:g.32871032del , CM000684.1:g.32871032del | GRCh37 |
NC_000022.9:g.31201032del | NCBI36 |
NG_016001.1:g.5326del | |
NG_016001.2:g.5326del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000266087.12:c.43del MANE Select | ENSP00000266087.7:p.Glu15ArgfsTer16 | |
ENST00000266087.11:c.43del | ENSP00000266087.7:p.Glu15ArgfsTer16 | |
ENST00000420700.5:c.43del | ENSP00000406155.1:p.Glu15ArgfsTer16 | |
ENST00000425028.5:c.43del | ENSP00000395823.1:p.Glu15ArgfsTer16 | |
ENST00000492535.1:n.31del | ||
NM_012179.3:c.43del | NP_036311.3:p.Glu15ArgfsTer16 | |
XM_011530106.1:c.-131del | XP_011528408.1:n.-131del | |
XM_024452207.1:c.-148del | XP_024307975.1:n.-148del | |
NM_012179.4:c.43del MANE Select | NP_036311.3:p.Glu15ArgfsTer16 |