Canonical Allele Identifier: CA645509271

Gene: LDLR

Linked Data

• ClinVar Variation Id: 440608
• ClinVar RCV Id: RCV000508943
• dbSNP Id: rs1555803841
• MyVariant Identifiers: chr19:g.11218090_11218091insT (hg19) ; chr19:g.11107414_11107415insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11107414_11107415insT , CM000681.2:g.11107414_11107415insT	GRCh38
NC_000019.9:g.11218090_11218091insT , CM000681.1:g.11218090_11218091insT	GRCh37
NC_000019.8:g.11079090_11079091insT	NCBI36
NG_009060.1:g.23034_23035insT , LRG_274:g.23034_23035insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1098_1099insT	ENSP00000252444.6:p.Lys367Ter
ENST00000559340.2:c.840_841insT	ENSP00000453696.2:p.Lys281Ter
ENST00000560467.2:c.840_841insT	ENSP00000453513.2:p.Lys281Ter
ENST00000558518.6:c.840_841insT MANE Select	ENSP00000454071.1:p.Lys281Ter
ENST00000252444.9:c.1094_1095insT
ENST00000455727.6:c.336_337insT	ENSP00000397829.2:p.Lys113Ter
ENST00000535915.5:c.717_718insT	ENSP00000440520.1:p.Lys240Ter
ENST00000545707.5:c.459_460insT	ENSP00000437639.1:p.Lys154Ter
ENST00000557933.5:c.840_841insT	ENSP00000453557.1:p.Lys281Ter
ENST00000558013.5:c.840_841insT	ENSP00000453346.1:p.Lys281Ter
ENST00000558518.5:c.840_841insT	ENSP00000454071.1:p.Lys281Ter
ENST00000558528.1:n.355_356insT
ENST00000560467.1:c.440_441insT
NM_000527.4:c.840_841insT , LRG_274t1:c.840_841insT	NP_000518.1:p.Lys281Ter
NM_001195798.1:c.840_841insT	NP_001182727.1:p.Lys281Ter
NM_001195799.1:c.717_718insT	NP_001182728.1:p.Lys240Ter
NM_001195800.1:c.336_337insT	NP_001182729.1:p.Lys113Ter
NM_001195803.1:c.459_460insT	NP_001182732.1:p.Lys154Ter
XM_011528010.1:c.840_841insT	XP_011526312.1:p.Lys281Ter
XM_011528011.1:c.459_460insT	XP_011526313.1:p.Lys154Ter
XR_244074.2:n.990_991insT
XM_011528010.2:c.840_841insT	XP_011526312.1:p.Lys281Ter
XR_001753685.2:n.957_958insT
XR_001753686.2:n.957_958insT
NM_000527.5:c.840_841insT MANE Select	NP_000518.1:p.Lys281Ter
NM_001195798.2:c.840_841insT	NP_001182727.1:p.Lys281Ter
NM_001195799.2:c.717_718insT	NP_001182728.1:p.Lys240Ter
NM_001195800.2:c.336_337insT	NP_001182729.1:p.Lys113Ter
NM_001195803.2:c.459_460insT	NP_001182732.1:p.Lys154Ter