Canonical Allele Identifier: CA658653698

Gene: LDLR

Linked Data

• ClinVar Variation Id: 441184
• ClinVar RCV Id: RCV000509240
• dbSNP Id: rs1555803186
• MyVariant Identifiers: chr19:g.11215944_11215958del (hg19) ; chr19:g.11105268_11105282del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105268_11105282del , CM000681.2:g.11105268_11105282del	GRCh38
NC_000019.9:g.11215944_11215958del , CM000681.1:g.11215944_11215958del	GRCh37
NC_000019.8:g.11076944_11076958del	NCBI36
NG_009060.1:g.20888_20902del , LRG_274:g.20888_20902del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.620_634del	ENSP00000252444.6:p.Cys207_Gln211del
ENST00000559340.2:c.362_376del	ENSP00000453696.2:p.Cys121_Gln125del
ENST00000560467.2:c.362_376del	ENSP00000453513.2:p.Cys121_Gln125del
ENST00000558518.6:c.362_376del MANE Select	ENSP00000454071.1:p.Cys121_Gln125del
ENST00000252444.9:c.616_630del
ENST00000455727.6:c.314-2124_314-2110del	ENSP00000397829.2:n.314-2124_314-2110del
ENST00000535915.5:c.239_253del	ENSP00000440520.1:p.Cys80_Gln84del
ENST00000545707.5:c.314-1297_314-1283del	ENSP00000437639.1:n.314-1297_314-1283del
ENST00000557933.5:c.362_376del	ENSP00000453557.1:p.Cys121_Gln125del
ENST00000558013.5:c.362_376del	ENSP00000453346.1:p.Cys121_Gln125del
ENST00000558518.5:c.362_376del	ENSP00000454071.1:p.Cys121_Gln125del
NM_000527.4:c.362_376del , LRG_274t1:c.362_376del	NP_000518.1:p.Cys121_Gln125del
NM_001195798.1:c.362_376del	NP_001182727.1:p.Cys121_Gln125del
NM_001195799.1:c.239_253del	NP_001182728.1:p.Cys80_Gln84del
NM_001195800.1:c.314-2124_314-2110del	NP_001182729.1:n.314-2124_314-2110del
NM_001195803.1:c.314-1297_314-1283del	NP_001182732.1:n.314-1297_314-1283del
XM_011528010.1:c.362_376del	XP_011526312.1:p.Cys121_Gln125del
XM_011528011.1:c.314-1297_314-1283del	XP_011526313.1:n.314-1297_314-1283del
XR_244074.2:n.512_526del
XM_011528010.2:c.362_376del	XP_011526312.1:p.Cys121_Gln125del
XR_001753685.2:n.479_493del
XR_001753686.2:n.479_493del
NM_000527.5:c.362_376del MANE Select	NP_000518.1:p.Cys121_Gln125del
NM_001195798.2:c.362_376del	NP_001182727.1:p.Cys121_Gln125del
NM_001195799.2:c.239_253del	NP_001182728.1:p.Cys80_Gln84del
NM_001195800.2:c.314-2124_314-2110del	NP_001182729.1:n.314-2124_314-2110del
NM_001195803.2:c.314-1297_314-1283del	NP_001182732.1:n.314-1297_314-1283del