Canonical Allele Identifier: CA1139666250

Gene: LDLR

Linked Data

• ClinVar Variation Id: 942579
• ClinVar RCV Id: RCV001212591
• dbSNP Id: rs2077275747

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105466_11105476del , CM000681.2:g.11105466_11105476del	GRCh38
NC_000019.9:g.11216142_11216152del , CM000681.1:g.11216142_11216152del	GRCh37
NC_000019.8:g.11077142_11077152del	NCBI36
NG_009060.1:g.21086_21096del , LRG_274:g.21086_21096del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.818_828del	ENSP00000252444.6:p.Leu273ProfsTer5
ENST00000559340.2:c.560_570del	ENSP00000453696.2:p.Leu187ProfsTer5
ENST00000560467.2:c.560_570del	ENSP00000453513.2:p.Leu187ProfsTer5
ENST00000558518.6:c.560_570del MANE Select	ENSP00000454071.1:p.Leu187ProfsTer5
ENST00000252444.9:c.814_824del
ENST00000455727.6:c.314-1926_314-1916del	ENSP00000397829.2:n.314-1926_314-1916del
ENST00000535915.5:c.437_447del	ENSP00000440520.1:p.Leu146ProfsTer5
ENST00000545707.5:c.314-1099_314-1089del	ENSP00000437639.1:n.314-1099_314-1089del
ENST00000557933.5:c.560_570del	ENSP00000453557.1:p.Leu187ProfsTer5
ENST00000558013.5:c.560_570del	ENSP00000453346.1:p.Leu187ProfsTer5
ENST00000558518.5:c.560_570del	ENSP00000454071.1:p.Leu187ProfsTer5
ENST00000560467.1:c.160_170del
NM_000527.4:c.560_570del , LRG_274t1:c.560_570del	NP_000518.1:p.Leu187ProfsTer5
NM_001195798.1:c.560_570del	NP_001182727.1:p.Leu187ProfsTer5
NM_001195799.1:c.437_447del	NP_001182728.1:p.Leu146ProfsTer5
NM_001195800.1:c.314-1926_314-1916del	NP_001182729.1:n.314-1926_314-1916del
NM_001195803.1:c.314-1099_314-1089del	NP_001182732.1:n.314-1099_314-1089del
XM_011528010.1:c.560_570del	XP_011526312.1:p.Leu187ProfsTer5
XM_011528011.1:c.314-1099_314-1089del	XP_011526313.1:n.314-1099_314-1089del
XR_244074.2:n.710_720del
XM_011528010.2:c.560_570del	XP_011526312.1:p.Leu187ProfsTer5
XR_001753685.2:n.677_687del
XR_001753686.2:n.677_687del
NM_000527.5:c.560_570del MANE Select	NP_000518.1:p.Leu187ProfsTer5
NM_001195798.2:c.560_570del	NP_001182727.1:p.Leu187ProfsTer5
NM_001195799.2:c.437_447del	NP_001182728.1:p.Leu146ProfsTer5
NM_001195800.2:c.314-1926_314-1916del	NP_001182729.1:n.314-1926_314-1916del
NM_001195803.2:c.314-1099_314-1089del	NP_001182732.1:n.314-1099_314-1089del