Canonical Allele Identifier: CA2322775351

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120110_11120112delinsGAT , CM000681.2:g.11120110_11120112delinsGAT	GRCh38
NC_000019.9:g.11230786_11230788delinsGAT , CM000681.1:g.11230786_11230788delinsGAT	GRCh37
NC_000019.8:g.11091786_11091788delinsGAT	NCBI36
NG_009060.1:g.35730_35732delinsGAT , LRG_274:g.35730_35732delinsGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2122_2124delinsGAT	ENSP00000252444.6:p.Asp708=
ENST00000559340.2:c.1724_1726delinsGAT	ENSP00000453696.2:p.Arg575=
ENST00000560467.2:c.1744_1746delinsGAT	ENSP00000453513.2:p.Asp582=
ENST00000558518.6:c.1864_1866delinsGAT MANE Select	ENSP00000454071.1:p.Asp622=
ENST00000252444.9:c.2118_2120delinsGAT
ENST00000455727.6:c.1360_1362delinsGAT	ENSP00000397829.2:p.Asp454=
ENST00000535915.5:c.1741_1743delinsGAT	ENSP00000440520.1:p.Asp581=
ENST00000545707.5:c.1483_1485delinsGAT	ENSP00000437639.1:p.Asp495=
ENST00000557933.5:c.1864_1866delinsGAT	ENSP00000453557.1:p.Asp622=
ENST00000558013.5:c.1864_1866delinsGAT	ENSP00000453346.1:p.Asp622=
ENST00000558518.5:c.1864_1866delinsGAT	ENSP00000454071.1:p.Asp622=
ENST00000559340.1:c.445_447delinsGAT
NM_000527.4:c.1864_1866delinsGAT , LRG_274t1:c.1864_1866delinsGAT	NP_000518.1:p.Asp622=
NM_001195798.1:c.1864_1866delinsGAT	NP_001182727.1:p.Asp622=
NM_001195799.1:c.1741_1743delinsGAT	NP_001182728.1:p.Asp581=
NM_001195800.1:c.1360_1362delinsGAT	NP_001182729.1:p.Asp454=
NM_001195803.1:c.1483_1485delinsGAT	NP_001182732.1:p.Asp495=
XM_011528010.1:c.1864_1866delinsGAT	XP_011526312.1:p.Asp622=
XM_011528011.1:c.1483_1485delinsGAT	XP_011526313.1:p.Asp495=
XR_244074.2:n.1874_1876delinsGAT
XM_011528010.2:c.1864_1866delinsGAT	XP_011526312.1:p.Asp622=
XR_001753685.2:n.1981_1983delinsGAT
XR_001753686.2:n.1841_1843delinsGAT
NM_000527.5:c.1864_1866delinsGAT MANE Select	NP_000518.1:p.Asp622=
NM_001195798.2:c.1864_1866delinsGAT	NP_001182727.1:p.Asp622=
NM_001195799.2:c.1741_1743delinsGAT	NP_001182728.1:p.Asp581=
NM_001195800.2:c.1360_1362delinsGAT	NP_001182729.1:p.Asp454=
NM_001195803.2:c.1483_1485delinsGAT	NP_001182732.1:p.Asp495=