Canonical Allele Identifier: CA631763687

Gene: LDLR

Linked Data

• dbSNP Id: rs1568596296
• gnomAD v2: 19-11216642-C-CGCCAGGG
• MyVariant Identifiers: chr19:g.11216642_11216643insGCCAGGG (hg19) ; chr19:g.11105966_11105967insGCCAGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105967_11105973dup , CM000681.2:g.11105967_11105973dup	GRCh38
NC_000019.9:g.11216643_11216649dup , CM000681.1:g.11216643_11216649dup	GRCh37
NC_000019.8:g.11077643_11077649dup	NCBI36
NG_009060.1:g.21587_21593dup , LRG_274:g.21587_21593dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.952+367_952+373dup	ENSP00000252444.6:n.952+367_952+373dup
ENST00000559340.2:c.694+367_694+373dup	ENSP00000453696.2:n.694+367_694+373dup
ENST00000560467.2:c.694+367_694+373dup	ENSP00000453513.2:n.694+367_694+373dup
ENST00000558518.6:c.694+367_694+373dup MANE Select	ENSP00000454071.1:n.694+367_694+373dup
ENST00000252444.9:c.948+367_948+373dup
ENST00000455727.6:c.314-1425_314-1419dup	ENSP00000397829.2:n.314-1425_314-1419dup
ENST00000535915.5:c.571+367_571+373dup	ENSP00000440520.1:n.571+367_571+373dup
ENST00000545707.5:c.314-598_314-592dup	ENSP00000437639.1:n.314-598_314-592dup
ENST00000557933.5:c.694+367_694+373dup	ENSP00000453557.1:n.694+367_694+373dup
ENST00000558013.5:c.694+367_694+373dup	ENSP00000453346.1:n.694+367_694+373dup
ENST00000558518.5:c.694+367_694+373dup	ENSP00000454071.1:n.694+367_694+373dup
ENST00000560467.1:c.294+367_294+373dup
NM_000527.4:c.694+367_694+373dup , LRG_274t1:c.694+367_694+373dup	NP_000518.1:n.694+367_694+373dup
NM_001195798.1:c.694+367_694+373dup	NP_001182727.1:n.694+367_694+373dup
NM_001195799.1:c.571+367_571+373dup	NP_001182728.1:n.571+367_571+373dup
NM_001195800.1:c.314-1425_314-1419dup	NP_001182729.1:n.314-1425_314-1419dup
NM_001195803.1:c.314-598_314-592dup	NP_001182732.1:n.314-598_314-592dup
XM_011528010.1:c.694+367_694+373dup	XP_011526312.1:n.694+367_694+373dup
XM_011528011.1:c.314-598_314-592dup	XP_011526313.1:n.314-598_314-592dup
XR_244074.2:n.844+367_844+373dup
XM_011528010.2:c.694+367_694+373dup	XP_011526312.1:n.694+367_694+373dup
XR_001753685.2:n.811+367_811+373dup
XR_001753686.2:n.811+367_811+373dup
NM_000527.5:c.694+367_694+373dup MANE Select	NP_000518.1:n.694+367_694+373dup
NM_001195798.2:c.694+367_694+373dup	NP_001182727.1:n.694+367_694+373dup
NM_001195799.2:c.571+367_571+373dup	NP_001182728.1:n.571+367_571+373dup
NM_001195800.2:c.314-1425_314-1419dup	NP_001182729.1:n.314-1425_314-1419dup
NM_001195803.2:c.314-598_314-592dup	NP_001182732.1:n.314-598_314-592dup