Canonical Allele Identifier: CA913189005

Gene: LDLR

Linked Data

• ClinVar Variation Id: 630543
• ClinVar RCV Id: RCV000776365 ; RCV001255941
• dbSNP Id: rs1600743301

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120383_11120384del , CM000681.2:g.11120383_11120384del	GRCh38
NC_000019.9:g.11231059_11231060del , CM000681.1:g.11231059_11231060del	GRCh37
NC_000019.8:g.11092059_11092060del	NCBI36
NG_009060.1:g.36003_36004del , LRG_274:g.36003_36004del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2259_2260del	ENSP00000252444.6:p.Cys753Ter
ENST00000559340.2:c.*70_*71del	ENSP00000453696.2:n.*70_*71del
ENST00000560467.2:c.1881_1882del	ENSP00000453513.2:p.Cys627Ter
ENST00000558518.6:c.2001_2002del MANE Select	ENSP00000454071.1:p.Cys667Ter
ENST00000252444.9:c.2255_2256del
ENST00000455727.6:c.1497_1498del	ENSP00000397829.2:p.Cys499Ter
ENST00000535915.5:c.1878_1879del	ENSP00000440520.1:p.Cys626Ter
ENST00000545707.5:c.1606+150_1606+151del	ENSP00000437639.1:n.1606+150_1606+151del
ENST00000557933.5:c.2001_2002del	ENSP00000453557.1:p.Cys667Ter
ENST00000558013.5:c.2001_2002del	ENSP00000453346.1:p.Cys667Ter
ENST00000558518.5:c.2001_2002del	ENSP00000454071.1:p.Cys667Ter
ENST00000559340.1:c.582_583del
NM_000527.4:c.2001_2002del , LRG_274t1:c.2001_2002del	NP_000518.1:p.Cys667Ter
NM_001195798.1:c.2001_2002del	NP_001182727.1:p.Cys667Ter
NM_001195799.1:c.1878_1879del	NP_001182728.1:p.Cys626Ter
NM_001195800.1:c.1497_1498del	NP_001182729.1:p.Cys499Ter
NM_001195803.1:c.1606+150_1606+151del	NP_001182732.1:n.1606+150_1606+151del
XM_011528010.1:c.2001_2002del	XP_011526312.1:p.Cys667Ter
XM_011528011.1:c.1620_1621del	XP_011526313.1:p.Cys540Ter
XR_244074.2:n.2011_2012del
XM_011528010.2:c.2001_2002del	XP_011526312.1:p.Cys667Ter
XR_001753685.2:n.2118_2119del
XR_001753686.2:n.1978_1979del
NM_000527.5:c.2001_2002del MANE Select	NP_000518.1:p.Cys667Ter
NM_001195798.2:c.2001_2002del	NP_001182727.1:p.Cys667Ter
NM_001195799.2:c.1878_1879del	NP_001182728.1:p.Cys626Ter
NM_001195800.2:c.1497_1498del	NP_001182729.1:p.Cys499Ter
NM_001195803.2:c.1606+150_1606+151del	NP_001182732.1:n.1606+150_1606+151del