Canonical Allele Identifier: CA993532884

Gene: LDLR

Linked Data

• dbSNP Id: rs2077288321
• gnomAD v3: 19-11105910-TTTG-T
• gnomAD v4: 19-11105910-TTTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105916_11105918del , CM000681.2:g.11105916_11105918del	GRCh38
NC_000019.9:g.11216592_11216594del , CM000681.1:g.11216592_11216594del	GRCh37
NC_000019.8:g.11077592_11077594del	NCBI36
NG_009060.1:g.21536_21538del , LRG_274:g.21536_21538del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.952+316_952+318del	ENSP00000252444.6:n.952+316_952+318del
ENST00000559340.2:c.694+316_694+318del	ENSP00000453696.2:n.694+316_694+318del
ENST00000560467.2:c.694+316_694+318del	ENSP00000453513.2:n.694+316_694+318del
ENST00000558518.6:c.694+316_694+318del MANE Select	ENSP00000454071.1:n.694+316_694+318del
ENST00000252444.9:c.948+316_948+318del
ENST00000455727.6:c.314-1476_314-1474del	ENSP00000397829.2:n.314-1476_314-1474del
ENST00000535915.5:c.571+316_571+318del	ENSP00000440520.1:n.571+316_571+318del
ENST00000545707.5:c.314-649_314-647del	ENSP00000437639.1:n.314-649_314-647del
ENST00000557933.5:c.694+316_694+318del	ENSP00000453557.1:n.694+316_694+318del
ENST00000558013.5:c.694+316_694+318del	ENSP00000453346.1:n.694+316_694+318del
ENST00000558518.5:c.694+316_694+318del	ENSP00000454071.1:n.694+316_694+318del
ENST00000560467.1:c.294+316_294+318del
NM_000527.4:c.694+316_694+318del , LRG_274t1:c.694+316_694+318del	NP_000518.1:n.694+316_694+318del
NM_001195798.1:c.694+316_694+318del	NP_001182727.1:n.694+316_694+318del
NM_001195799.1:c.571+316_571+318del	NP_001182728.1:n.571+316_571+318del
NM_001195800.1:c.314-1476_314-1474del	NP_001182729.1:n.314-1476_314-1474del
NM_001195803.1:c.314-649_314-647del	NP_001182732.1:n.314-649_314-647del
XM_011528010.1:c.694+316_694+318del	XP_011526312.1:n.694+316_694+318del
XM_011528011.1:c.314-649_314-647del	XP_011526313.1:n.314-649_314-647del
XR_244074.2:n.844+316_844+318del
XM_011528010.2:c.694+316_694+318del	XP_011526312.1:n.694+316_694+318del
XR_001753685.2:n.811+316_811+318del
XR_001753686.2:n.811+316_811+318del
NM_000527.5:c.694+316_694+318del MANE Select	NP_000518.1:n.694+316_694+318del
NM_001195798.2:c.694+316_694+318del	NP_001182727.1:n.694+316_694+318del
NM_001195799.2:c.571+316_571+318del	NP_001182728.1:n.571+316_571+318del
NM_001195800.2:c.314-1476_314-1474del	NP_001182729.1:n.314-1476_314-1474del
NM_001195803.2:c.314-649_314-647del	NP_001182732.1:n.314-649_314-647del