Canonical Allele Identifier: CA2322775410

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120188_11120189delinsTC , CM000681.2:g.11120188_11120189delinsTC	GRCh38
NC_000019.9:g.11230864_11230865delinsTC , CM000681.1:g.11230864_11230865delinsTC	GRCh37
NC_000019.8:g.11091864_11091865delinsTC	NCBI36
NG_009060.1:g.35808_35809delinsTC , LRG_274:g.35808_35809delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2200_2201delinsTC	ENSP00000252444.6:p.Ser734=
ENST00000559340.2:c.*11_*12delinsTC	ENSP00000453696.2:n.*11_*12delinsTC
ENST00000560467.2:c.1822_1823delinsTC	ENSP00000453513.2:p.Ser608=
ENST00000558518.6:c.1942_1943delinsTC MANE Select	ENSP00000454071.1:p.Ser648=
ENST00000252444.9:c.2196_2197delinsTC
ENST00000455727.6:c.1438_1439delinsTC	ENSP00000397829.2:p.Ser480=
ENST00000535915.5:c.1819_1820delinsTC	ENSP00000440520.1:p.Ser607=
ENST00000545707.5:c.1561_1562delinsTC	ENSP00000437639.1:p.Ser521=
ENST00000557933.5:c.1942_1943delinsTC	ENSP00000453557.1:p.Ser648=
ENST00000558013.5:c.1942_1943delinsTC	ENSP00000453346.1:p.Ser648=
ENST00000558518.5:c.1942_1943delinsTC	ENSP00000454071.1:p.Ser648=
ENST00000559340.1:c.523_524delinsTC
NM_000527.4:c.1942_1943delinsTC , LRG_274t1:c.1942_1943delinsTC	NP_000518.1:p.Ser648=
NM_001195798.1:c.1942_1943delinsTC	NP_001182727.1:p.Ser648=
NM_001195799.1:c.1819_1820delinsTC	NP_001182728.1:p.Ser607=
NM_001195800.1:c.1438_1439delinsTC	NP_001182729.1:p.Ser480=
NM_001195803.1:c.1561_1562delinsTC	NP_001182732.1:p.Ser521=
XM_011528010.1:c.1942_1943delinsTC	XP_011526312.1:p.Ser648=
XM_011528011.1:c.1561_1562delinsTC	XP_011526313.1:p.Ser521=
XR_244074.2:n.1952_1953delinsTC
XM_011528010.2:c.1942_1943delinsTC	XP_011526312.1:p.Ser648=
XR_001753685.2:n.2059_2060delinsTC
XR_001753686.2:n.1919_1920delinsTC
NM_000527.5:c.1942_1943delinsTC MANE Select	NP_000518.1:p.Ser648=
NM_001195798.2:c.1942_1943delinsTC	NP_001182727.1:p.Ser648=
NM_001195799.2:c.1819_1820delinsTC	NP_001182728.1:p.Ser607=
NM_001195800.2:c.1438_1439delinsTC	NP_001182729.1:p.Ser480=
NM_001195803.2:c.1561_1562delinsTC	NP_001182732.1:p.Ser521=