HGVS | Genome Assembly |
---|---|
NC_000003.12:g.49122840_49122842del , CM000665.2:g.49122840_49122842del | GRCh38 |
NC_000003.11:g.49160273_49160275del , CM000665.1:g.49160273_49160275del | GRCh37 |
NC_000003.10:g.49135277_49135279del | NCBI36 |
NG_008094.1:g.15325_15327del | |
NG_054716.1:g.3097_3099del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305544.9:c.4435_4437del MANE Select | ENSP00000307156.4:p.Glu1479del | |
ENST00000305544.8:c.4435_4437del | ENSP00000307156.4:p.Glu1479del | |
ENST00000418109.5:c.4435_4437del | ENSP00000388325.1:p.Glu1479del | |
ENST00000469665.1:n.744_746del | ||
NM_002292.3:c.4435_4437del | NP_002283.3:p.Glu1479del | |
XM_005265127.3:c.4435_4437del | XP_005265184.1:p.Glu1479del | |
XM_005265127.4:c.4435_4437del | XP_005265184.1:p.Glu1479del | |
NM_002292.4:c.4435_4437del MANE Select | NP_002283.3:p.Glu1479del |