Canonical Allele Identifier: CA2322767779

Gene: LDLR

Linked Data

• dbSNP Id: rs2077287455

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105846_11105847insG , CM000681.2:g.11105846_11105847insG	GRCh38
NC_000019.9:g.11216522_11216523insG , CM000681.1:g.11216522_11216523insG	GRCh37
NC_000019.8:g.11077522_11077523insG	NCBI36
NG_009060.1:g.21466_21467insG , LRG_274:g.21466_21467insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.952+246_952+247insG	ENSP00000252444.6:n.952+246_952+247insG
ENST00000559340.2:c.694+246_694+247insG	ENSP00000453696.2:n.694+246_694+247insG
ENST00000560467.2:c.694+246_694+247insG	ENSP00000453513.2:n.694+246_694+247insG
ENST00000558518.6:c.694+246_694+247insG MANE Select	ENSP00000454071.1:n.694+246_694+247insG
ENST00000252444.9:c.948+246_948+247insG
ENST00000455727.6:c.314-1546_314-1545insG	ENSP00000397829.2:n.314-1546_314-1545insG
ENST00000535915.5:c.571+246_571+247insG	ENSP00000440520.1:n.571+246_571+247insG
ENST00000545707.5:c.314-719_314-718insG	ENSP00000437639.1:n.314-719_314-718insG
ENST00000557933.5:c.694+246_694+247insG	ENSP00000453557.1:n.694+246_694+247insG
ENST00000558013.5:c.694+246_694+247insG	ENSP00000453346.1:n.694+246_694+247insG
ENST00000558518.5:c.694+246_694+247insG	ENSP00000454071.1:n.694+246_694+247insG
ENST00000560467.1:c.294+246_294+247insG
NM_000527.4:c.694+246_694+247insG , LRG_274t1:c.694+246_694+247insG	NP_000518.1:n.694+246_694+247insG
NM_001195798.1:c.694+246_694+247insG	NP_001182727.1:n.694+246_694+247insG
NM_001195799.1:c.571+246_571+247insG	NP_001182728.1:n.571+246_571+247insG
NM_001195800.1:c.314-1546_314-1545insG	NP_001182729.1:n.314-1546_314-1545insG
NM_001195803.1:c.314-719_314-718insG	NP_001182732.1:n.314-719_314-718insG
XM_011528010.1:c.694+246_694+247insG	XP_011526312.1:n.694+246_694+247insG
XM_011528011.1:c.314-719_314-718insG	XP_011526313.1:n.314-719_314-718insG
XR_244074.2:n.844+246_844+247insG
XM_011528010.2:c.694+246_694+247insG	XP_011526312.1:n.694+246_694+247insG
XR_001753685.2:n.811+246_811+247insG
XR_001753686.2:n.811+246_811+247insG
NM_000527.5:c.694+246_694+247insG MANE Select	NP_000518.1:n.694+246_694+247insG
NM_001195798.2:c.694+246_694+247insG	NP_001182727.1:n.694+246_694+247insG
NM_001195799.2:c.571+246_571+247insG	NP_001182728.1:n.571+246_571+247insG
NM_001195800.2:c.314-1546_314-1545insG	NP_001182729.1:n.314-1546_314-1545insG
NM_001195803.2:c.314-719_314-718insG	NP_001182732.1:n.314-719_314-718insG