Canonical Allele Identifier: CA2582473139

Gene: LDLR

Linked Data

• gnomAD v4: 19-11104118-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11104124_11104125del , CM000681.2:g.11104124_11104125del	GRCh38
NC_000019.9:g.11214800_11214801del , CM000681.1:g.11214800_11214801del	GRCh37
NC_000019.8:g.11075800_11075801del	NCBI36
NG_009060.1:g.19744_19745del , LRG_274:g.19744_19745del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.572-1096_572-1095del	ENSP00000252444.6:n.572-1096_572-1095del
ENST00000559340.2:c.314-1096_314-1095del	ENSP00000453696.2:n.314-1096_314-1095del
ENST00000560467.2:c.314-1096_314-1095del	ENSP00000453513.2:n.314-1096_314-1095del
ENST00000558518.6:c.314-1096_314-1095del MANE Select	ENSP00000454071.1:n.314-1096_314-1095del
ENST00000252444.9:c.568-1096_568-1095del
ENST00000455727.6:c.313+1338_313+1339del	ENSP00000397829.2:n.313+1338_313+1339del
ENST00000535915.5:c.191-1096_191-1095del	ENSP00000440520.1:n.191-1096_191-1095del
ENST00000545707.5:c.313+1338_313+1339del	ENSP00000437639.1:n.313+1338_313+1339del
ENST00000557933.5:c.314-1096_314-1095del	ENSP00000453557.1:n.314-1096_314-1095del
ENST00000557958.1:n.1737_1738del
ENST00000558013.5:c.314-1096_314-1095del	ENSP00000453346.1:n.314-1096_314-1095del
ENST00000558518.5:c.314-1096_314-1095del	ENSP00000454071.1:n.314-1096_314-1095del
NM_000527.4:c.314-1096_314-1095del , LRG_274t1:c.314-1096_314-1095del	NP_000518.1:n.314-1096_314-1095del
NM_001195798.1:c.314-1096_314-1095del	NP_001182727.1:n.314-1096_314-1095del
NM_001195799.1:c.191-1096_191-1095del	NP_001182728.1:n.191-1096_191-1095del
NM_001195800.1:c.313+1338_313+1339del	NP_001182729.1:n.313+1338_313+1339del
NM_001195803.1:c.313+1338_313+1339del	NP_001182732.1:n.313+1338_313+1339del
XM_011528010.1:c.314-1096_314-1095del	XP_011526312.1:n.314-1096_314-1095del
XM_011528011.1:c.313+1338_313+1339del	XP_011526313.1:n.313+1338_313+1339del
XR_244074.2:n.464-1096_464-1095del
XM_011528010.2:c.314-1096_314-1095del	XP_011526312.1:n.314-1096_314-1095del
XR_001753685.2:n.431-1096_431-1095del
XR_001753686.2:n.431-1096_431-1095del
NM_000527.5:c.314-1096_314-1095del MANE Select	NP_000518.1:n.314-1096_314-1095del
NM_001195798.2:c.314-1096_314-1095del	NP_001182727.1:n.314-1096_314-1095del
NM_001195799.2:c.191-1096_191-1095del	NP_001182728.1:n.191-1096_191-1095del
NM_001195800.2:c.313+1338_313+1339del	NP_001182729.1:n.313+1338_313+1339del
NM_001195803.2:c.313+1338_313+1339del	NP_001182732.1:n.313+1338_313+1339del