Canonical Allele Identifier: CA2322767844

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105959_11105961delinsGCT , CM000681.2:g.11105959_11105961delinsGCT	GRCh38
NC_000019.9:g.11216635_11216637delinsGCT , CM000681.1:g.11216635_11216637delinsGCT	GRCh37
NC_000019.8:g.11077635_11077637delinsGCT	NCBI36
NG_009060.1:g.21579_21581delinsGCT , LRG_274:g.21579_21581delinsGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.952+359_952+361delinsGCT	ENSP00000252444.6:n.952+359_952+361delinsGCT
ENST00000559340.2:c.694+359_694+361delinsGCT	ENSP00000453696.2:n.694+359_694+361delinsGCT
ENST00000560467.2:c.694+359_694+361delinsGCT	ENSP00000453513.2:n.694+359_694+361delinsGCT
ENST00000558518.6:c.694+359_694+361delinsGCT MANE Select	ENSP00000454071.1:n.694+359_694+361delinsGCT
ENST00000252444.9:c.948+359_948+361delinsGCT
ENST00000455727.6:c.314-1433_314-1431delinsGCT	ENSP00000397829.2:n.314-1433_314-1431delinsGCT
ENST00000535915.5:c.571+359_571+361delinsGCT	ENSP00000440520.1:n.571+359_571+361delinsGCT
ENST00000545707.5:c.314-606_314-604delinsGCT	ENSP00000437639.1:n.314-606_314-604delinsGCT
ENST00000557933.5:c.694+359_694+361delinsGCT	ENSP00000453557.1:n.694+359_694+361delinsGCT
ENST00000558013.5:c.694+359_694+361delinsGCT	ENSP00000453346.1:n.694+359_694+361delinsGCT
ENST00000558518.5:c.694+359_694+361delinsGCT	ENSP00000454071.1:n.694+359_694+361delinsGCT
ENST00000560467.1:c.294+359_294+361delinsGCT
NM_000527.4:c.694+359_694+361delinsGCT , LRG_274t1:c.694+359_694+361delinsGCT	NP_000518.1:n.694+359_694+361delinsGCT
NM_001195798.1:c.694+359_694+361delinsGCT	NP_001182727.1:n.694+359_694+361delinsGCT
NM_001195799.1:c.571+359_571+361delinsGCT	NP_001182728.1:n.571+359_571+361delinsGCT
NM_001195800.1:c.314-1433_314-1431delinsGCT	NP_001182729.1:n.314-1433_314-1431delinsGCT
NM_001195803.1:c.314-606_314-604delinsGCT	NP_001182732.1:n.314-606_314-604delinsGCT
XM_011528010.1:c.694+359_694+361delinsGCT	XP_011526312.1:n.694+359_694+361delinsGCT
XM_011528011.1:c.314-606_314-604delinsGCT	XP_011526313.1:n.314-606_314-604delinsGCT
XR_244074.2:n.844+359_844+361delinsGCT
XM_011528010.2:c.694+359_694+361delinsGCT	XP_011526312.1:n.694+359_694+361delinsGCT
XR_001753685.2:n.811+359_811+361delinsGCT
XR_001753686.2:n.811+359_811+361delinsGCT
NM_000527.5:c.694+359_694+361delinsGCT MANE Select	NP_000518.1:n.694+359_694+361delinsGCT
NM_001195798.2:c.694+359_694+361delinsGCT	NP_001182727.1:n.694+359_694+361delinsGCT
NM_001195799.2:c.571+359_571+361delinsGCT	NP_001182728.1:n.571+359_571+361delinsGCT
NM_001195800.2:c.314-1433_314-1431delinsGCT	NP_001182729.1:n.314-1433_314-1431delinsGCT
NM_001195803.2:c.314-606_314-604delinsGCT	NP_001182732.1:n.314-606_314-604delinsGCT