Canonical Allele Identifier: CA2322767845

Gene: LDLR

Linked Data

• dbSNP Id: rs2077289296

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105962_11105963del , CM000681.2:g.11105962_11105963del	GRCh38
NC_000019.9:g.11216638_11216639del , CM000681.1:g.11216638_11216639del	GRCh37
NC_000019.8:g.11077638_11077639del	NCBI36
NG_009060.1:g.21582_21583del , LRG_274:g.21582_21583del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.952+362_952+363del	ENSP00000252444.6:n.952+362_952+363del
ENST00000559340.2:c.694+362_694+363del	ENSP00000453696.2:n.694+362_694+363del
ENST00000560467.2:c.694+362_694+363del	ENSP00000453513.2:n.694+362_694+363del
ENST00000558518.6:c.694+362_694+363del MANE Select	ENSP00000454071.1:n.694+362_694+363del
ENST00000252444.9:c.948+362_948+363del
ENST00000455727.6:c.314-1430_314-1429del	ENSP00000397829.2:n.314-1430_314-1429del
ENST00000535915.5:c.571+362_571+363del	ENSP00000440520.1:n.571+362_571+363del
ENST00000545707.5:c.314-603_314-602del	ENSP00000437639.1:n.314-603_314-602del
ENST00000557933.5:c.694+362_694+363del	ENSP00000453557.1:n.694+362_694+363del
ENST00000558013.5:c.694+362_694+363del	ENSP00000453346.1:n.694+362_694+363del
ENST00000558518.5:c.694+362_694+363del	ENSP00000454071.1:n.694+362_694+363del
ENST00000560467.1:c.294+362_294+363del
NM_000527.4:c.694+362_694+363del , LRG_274t1:c.694+362_694+363del	NP_000518.1:n.694+362_694+363del
NM_001195798.1:c.694+362_694+363del	NP_001182727.1:n.694+362_694+363del
NM_001195799.1:c.571+362_571+363del	NP_001182728.1:n.571+362_571+363del
NM_001195800.1:c.314-1430_314-1429del	NP_001182729.1:n.314-1430_314-1429del
NM_001195803.1:c.314-603_314-602del	NP_001182732.1:n.314-603_314-602del
XM_011528010.1:c.694+362_694+363del	XP_011526312.1:n.694+362_694+363del
XM_011528011.1:c.314-603_314-602del	XP_011526313.1:n.314-603_314-602del
XR_244074.2:n.844+362_844+363del
XM_011528010.2:c.694+362_694+363del	XP_011526312.1:n.694+362_694+363del
XR_001753685.2:n.811+362_811+363del
XR_001753686.2:n.811+362_811+363del
NM_000527.5:c.694+362_694+363del MANE Select	NP_000518.1:n.694+362_694+363del
NM_001195798.2:c.694+362_694+363del	NP_001182727.1:n.694+362_694+363del
NM_001195799.2:c.571+362_571+363del	NP_001182728.1:n.571+362_571+363del
NM_001195800.2:c.314-1430_314-1429del	NP_001182729.1:n.314-1430_314-1429del
NM_001195803.2:c.314-603_314-602del	NP_001182732.1:n.314-603_314-602del