Canonical Allele Identifier: CA2580096447

Gene: LDLR

Linked Data

• ClinVar Variation Id: 1745220
• ClinVar RCV Id: RCV002335890

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105414_11105416del , CM000681.2:g.11105414_11105416del	GRCh38
NC_000019.9:g.11216090_11216092del , CM000681.1:g.11216090_11216092del	GRCh37
NC_000019.8:g.11077090_11077092del	NCBI36
NG_009060.1:g.21034_21036del , LRG_274:g.21034_21036del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.766_768del	ENSP00000252444.6:p.Asp256del
ENST00000559340.2:c.508_510del	ENSP00000453696.2:p.Asp170del
ENST00000560467.2:c.508_510del	ENSP00000453513.2:p.Asp170del
ENST00000558518.6:c.508_510del MANE Select	ENSP00000454071.1:p.Asp170del
ENST00000252444.9:c.762_764del
ENST00000455727.6:c.314-1978_314-1976del	ENSP00000397829.2:n.314-1978_314-1976del
ENST00000535915.5:c.385_387del	ENSP00000440520.1:p.Asp129del
ENST00000545707.5:c.314-1151_314-1149del	ENSP00000437639.1:n.314-1151_314-1149del
ENST00000557933.5:c.508_510del	ENSP00000453557.1:p.Asp170del
ENST00000558013.5:c.508_510del	ENSP00000453346.1:p.Asp170del
ENST00000558518.5:c.508_510del	ENSP00000454071.1:p.Asp170del
ENST00000560467.1:c.108_110del
NM_000527.4:c.508_510del , LRG_274t1:c.508_510del	NP_000518.1:p.Asp170del
NM_001195798.1:c.508_510del	NP_001182727.1:p.Asp170del
NM_001195799.1:c.385_387del	NP_001182728.1:p.Asp129del
NM_001195800.1:c.314-1978_314-1976del	NP_001182729.1:n.314-1978_314-1976del
NM_001195803.1:c.314-1151_314-1149del	NP_001182732.1:n.314-1151_314-1149del
XM_011528010.1:c.508_510del	XP_011526312.1:p.Asp170del
XM_011528011.1:c.314-1151_314-1149del	XP_011526313.1:n.314-1151_314-1149del
XR_244074.2:n.658_660del
XM_011528010.2:c.508_510del	XP_011526312.1:p.Asp170del
XR_001753685.2:n.625_627del
XR_001753686.2:n.625_627del
NM_000527.5:c.508_510del MANE Select	NP_000518.1:p.Asp170del
NM_001195798.2:c.508_510del	NP_001182727.1:p.Asp170del
NM_001195799.2:c.385_387del	NP_001182728.1:p.Asp129del
NM_001195800.2:c.314-1978_314-1976del	NP_001182729.1:n.314-1978_314-1976del
NM_001195803.2:c.314-1151_314-1149del	NP_001182732.1:n.314-1151_314-1149del