Canonical Allele Identifier: CA10585594

Gene: LDLR

Linked Data

• ClinVar Variation Id: 252011
• ClinVar RCV Id: RCV000237652
• dbSNP Id: rs879255006
• MyVariant Identifiers: chr19:g.11227574_11227575del (hg19) ; chr19:g.11116898_11116899del (hg38)
• PubMed: PMID:7635461

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116898_11116899del , CM000681.2:g.11116898_11116899del	GRCh38
NC_000019.9:g.11227574_11227575del , CM000681.1:g.11227574_11227575del	GRCh37
NC_000019.8:g.11088574_11088575del	NCBI36
NG_009060.1:g.32518_32519del , LRG_274:g.32518_32519del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2003_2004del	ENSP00000252444.6:p.Leu668ProfsTer20
ENST00000559340.2:c.1705+686_1705+687del	ENSP00000453696.2:n.1705+686_1705+687del
ENST00000560467.2:c.1625_1626del	ENSP00000453513.2:p.Leu542ProfsTer20
ENST00000558518.6:c.1745_1746del MANE Select	ENSP00000454071.1:p.Leu582ProfsTer20
ENST00000252444.9:c.1999_2000del
ENST00000455727.6:c.1241_1242del	ENSP00000397829.2:p.Leu414ProfsTer20
ENST00000535915.5:c.1622_1623del	ENSP00000440520.1:p.Leu541ProfsTer20
ENST00000545707.5:c.1364_1365del	ENSP00000437639.1:p.Leu455ProfsTer20
ENST00000557933.5:c.1745_1746del	ENSP00000453557.1:p.Leu582ProfsTer20
ENST00000558013.5:c.1745_1746del	ENSP00000453346.1:p.Leu582ProfsTer20
ENST00000558518.5:c.1745_1746del	ENSP00000454071.1:p.Leu582ProfsTer20
ENST00000559340.1:c.426+686_426+687del
NM_000527.4:c.1745_1746del , LRG_274t1:c.1745_1746del	NP_000518.1:p.Leu582ProfsTer20
NM_001195798.1:c.1745_1746del	NP_001182727.1:p.Leu582ProfsTer20
NM_001195799.1:c.1622_1623del	NP_001182728.1:p.Leu541ProfsTer20
NM_001195800.1:c.1241_1242del	NP_001182729.1:p.Leu414ProfsTer20
NM_001195803.1:c.1364_1365del	NP_001182732.1:p.Leu455ProfsTer20
XM_011528010.1:c.1745_1746del	XP_011526312.1:p.Leu582ProfsTer20
XM_011528011.1:c.1364_1365del	XP_011526313.1:p.Leu455ProfsTer20
XR_244074.2:n.1855+686_1855+687del
XM_011528010.2:c.1745_1746del	XP_011526312.1:p.Leu582ProfsTer20
XR_001753685.2:n.1862_1863del
XR_001753686.2:n.1822+686_1822+687del
NM_000527.5:c.1745_1746del MANE Select	NP_000518.1:p.Leu582ProfsTer20
NM_001195798.2:c.1745_1746del	NP_001182727.1:p.Leu582ProfsTer20
NM_001195799.2:c.1622_1623del	NP_001182728.1:p.Leu541ProfsTer20
NM_001195800.2:c.1241_1242del	NP_001182729.1:p.Leu414ProfsTer20
NM_001195803.2:c.1364_1365del	NP_001182732.1:p.Leu455ProfsTer20