Canonical Allele Identifier: CA10585505

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251899
• ClinVar RCV Id: RCV000237381
• dbSNP Id: rs879254941
• MyVariant Identifiers: chr19:g.11224419_11224427del (hg19) ; chr19:g.11113743_11113751del (hg38)
• PubMed: PMID:8882879

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113743_11113751del , CM000681.2:g.11113743_11113751del	GRCh38
NC_000019.9:g.11224419_11224427del , CM000681.1:g.11224419_11224427del	GRCh37
NC_000019.8:g.11085419_11085427del	NCBI36
NG_009060.1:g.29363_29371del , LRG_274:g.29363_29371del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1825_1833del	ENSP00000252444.6:p.Val609_Asp611del
ENST00000559340.2:c.1567_1575del	ENSP00000453696.2:p.Val523_Asp525del
ENST00000560467.2:c.1447_1455del	ENSP00000453513.2:p.Val483_Asp485del
ENST00000558518.6:c.1567_1575del MANE Select	ENSP00000454071.1:p.Val523_Asp525del
ENST00000252444.9:c.1821_1829del
ENST00000455727.6:c.1063_1071del	ENSP00000397829.2:p.Val355_Asp357del
ENST00000535915.5:c.1444_1452del	ENSP00000440520.1:p.Val482_Asp484del
ENST00000545707.5:c.1186_1194del	ENSP00000437639.1:p.Val396_Asp398del
ENST00000557933.5:c.1567_1575del	ENSP00000453557.1:p.Val523_Asp525del
ENST00000558013.5:c.1567_1575del	ENSP00000453346.1:p.Val523_Asp525del
ENST00000558518.5:c.1567_1575del	ENSP00000454071.1:p.Val523_Asp525del
ENST00000559340.1:c.288_296del
NM_000527.4:c.1567_1575del , LRG_274t1:c.1567_1575del	NP_000518.1:p.Val523_Asp525del
NM_001195798.1:c.1567_1575del	NP_001182727.1:p.Val523_Asp525del
NM_001195799.1:c.1444_1452del	NP_001182728.1:p.Val482_Asp484del
NM_001195800.1:c.1063_1071del	NP_001182729.1:p.Val355_Asp357del
NM_001195803.1:c.1186_1194del	NP_001182732.1:p.Val396_Asp398del
XM_011528010.1:c.1567_1575del	XP_011526312.1:p.Val523_Asp525del
XM_011528011.1:c.1186_1194del	XP_011526313.1:p.Val396_Asp398del
XR_244074.2:n.1717_1725del
XM_011528010.2:c.1567_1575del	XP_011526312.1:p.Val523_Asp525del
XR_001753685.2:n.1684_1692del
XR_001753686.2:n.1684_1692del
NM_000527.5:c.1567_1575del MANE Select	NP_000518.1:p.Val523_Asp525del
NM_001195798.2:c.1567_1575del	NP_001182727.1:p.Val523_Asp525del
NM_001195799.2:c.1444_1452del	NP_001182728.1:p.Val482_Asp484del
NM_001195800.2:c.1063_1071del	NP_001182729.1:p.Val355_Asp357del
NM_001195803.2:c.1186_1194del	NP_001182732.1:p.Val396_Asp398del