Canonical Allele Identifier: CA2322775354

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120112_11120115delinsTATC , CM000681.2:g.11120112_11120115delinsTATC	GRCh38
NC_000019.9:g.11230788_11230791delinsTATC , CM000681.1:g.11230788_11230791delinsTATC	GRCh37
NC_000019.8:g.11091788_11091791delinsTATC	NCBI36
NG_009060.1:g.35732_35735delinsTATC , LRG_274:g.35732_35735delinsTATC

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2124_2127delinsTATC	ENSP00000252444.6:p.Asp708=
ENST00000559340.2:c.1726_1729delinsTATC	ENSP00000453696.2:p.Tyr576=
ENST00000560467.2:c.1746_1749delinsTATC	ENSP00000453513.2:p.Asp582=
ENST00000558518.6:c.1866_1869delinsTATC MANE Select	ENSP00000454071.1:p.Asp622=
ENST00000252444.9:c.2120_2123delinsTATC
ENST00000455727.6:c.1362_1365delinsTATC	ENSP00000397829.2:p.Asp454=
ENST00000535915.5:c.1743_1746delinsTATC	ENSP00000440520.1:p.Asp581=
ENST00000545707.5:c.1485_1488delinsTATC	ENSP00000437639.1:p.Asp495=
ENST00000557933.5:c.1866_1869delinsTATC	ENSP00000453557.1:p.Asp622=
ENST00000558013.5:c.1866_1869delinsTATC	ENSP00000453346.1:p.Asp622=
ENST00000558518.5:c.1866_1869delinsTATC	ENSP00000454071.1:p.Asp622=
ENST00000559340.1:c.447_450delinsTATC
NM_000527.4:c.1866_1869delinsTATC , LRG_274t1:c.1866_1869delinsTATC	NP_000518.1:p.Asp622=
NM_001195798.1:c.1866_1869delinsTATC	NP_001182727.1:p.Asp622=
NM_001195799.1:c.1743_1746delinsTATC	NP_001182728.1:p.Asp581=
NM_001195800.1:c.1362_1365delinsTATC	NP_001182729.1:p.Asp454=
NM_001195803.1:c.1485_1488delinsTATC	NP_001182732.1:p.Asp495=
XM_011528010.1:c.1866_1869delinsTATC	XP_011526312.1:p.Asp622=
XM_011528011.1:c.1485_1488delinsTATC	XP_011526313.1:p.Asp495=
XR_244074.2:n.1876_1879delinsTATC
XM_011528010.2:c.1866_1869delinsTATC	XP_011526312.1:p.Asp622=
XR_001753685.2:n.1983_1986delinsTATC
XR_001753686.2:n.1843_1846delinsTATC
NM_000527.5:c.1866_1869delinsTATC MANE Select	NP_000518.1:p.Asp622=
NM_001195798.2:c.1866_1869delinsTATC	NP_001182727.1:p.Asp622=
NM_001195799.2:c.1743_1746delinsTATC	NP_001182728.1:p.Asp581=
NM_001195800.2:c.1362_1365delinsTATC	NP_001182729.1:p.Asp454=
NM_001195803.2:c.1485_1488delinsTATC	NP_001182732.1:p.Asp495=