Canonical Allele Identifier: CA10585465

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251854
• ClinVar RCV Id: RCV000238057 ; RCV002229691
• dbSNP Id: rs879254911
• MyVariant Identifiers: chr19:g.11224312_11224314del (hg19) ; chr19:g.11113636_11113638del (hg38)
• PubMed: PMID:7635482

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113636_11113638del , CM000681.2:g.11113636_11113638del	GRCh38
NC_000019.9:g.11224312_11224314del , CM000681.1:g.11224312_11224314del	GRCh37
NC_000019.8:g.11085312_11085314del	NCBI36
NG_009060.1:g.29256_29258del , LRG_274:g.29256_29258del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1718_1720del	ENSP00000252444.6:p.Asn573del
ENST00000559340.2:c.1460_1462del	ENSP00000453696.2:p.Asn487del
ENST00000560467.2:c.1340_1342del	ENSP00000453513.2:p.Asn447del
ENST00000558518.6:c.1460_1462del MANE Select	ENSP00000454071.1:p.Asn487del
ENST00000252444.9:c.1714_1716del
ENST00000455727.6:c.956_958del	ENSP00000397829.2:p.Asn319del
ENST00000535915.5:c.1337_1339del	ENSP00000440520.1:p.Asn446del
ENST00000545707.5:c.1079_1081del	ENSP00000437639.1:p.Asn360del
ENST00000557933.5:c.1460_1462del	ENSP00000453557.1:p.Asn487del
ENST00000558013.5:c.1460_1462del	ENSP00000453346.1:p.Asn487del
ENST00000558518.5:c.1460_1462del	ENSP00000454071.1:p.Asn487del
ENST00000559340.1:c.181_183del
NM_000527.4:c.1460_1462del , LRG_274t1:c.1460_1462del	NP_000518.1:p.Asn487del
NM_001195798.1:c.1460_1462del	NP_001182727.1:p.Asn487del
NM_001195799.1:c.1337_1339del	NP_001182728.1:p.Asn446del
NM_001195800.1:c.956_958del	NP_001182729.1:p.Asn319del
NM_001195803.1:c.1079_1081del	NP_001182732.1:p.Asn360del
XM_011528010.1:c.1460_1462del	XP_011526312.1:p.Asn487del
XM_011528011.1:c.1079_1081del	XP_011526313.1:p.Asn360del
XR_244074.2:n.1610_1612del
XM_011528010.2:c.1460_1462del	XP_011526312.1:p.Asn487del
XR_001753685.2:n.1577_1579del
XR_001753686.2:n.1577_1579del
NM_000527.5:c.1460_1462del MANE Select	NP_000518.1:p.Asn487del
NM_001195798.2:c.1460_1462del	NP_001182727.1:p.Asn487del
NM_001195799.2:c.1337_1339del	NP_001182728.1:p.Asn446del
NM_001195800.2:c.956_958del	NP_001182729.1:p.Asn319del
NM_001195803.2:c.1079_1081del	NP_001182732.1:p.Asn360del