Canonical Allele Identifier: CA645509287

Gene: LDLR

Linked Data

• ClinVar Variation Id: 440666
• ClinVar RCV Id: RCV000508805
• dbSNP Id: rs1555806582
• MyVariant Identifiers: chr19:g.11227671_11227676del (hg19) ; chr19:g.11116995_11117000del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116995_11117000del , CM000681.2:g.11116995_11117000del	GRCh38
NC_000019.9:g.11227671_11227676del , CM000681.1:g.11227671_11227676del	GRCh37
NC_000019.8:g.11088671_11088676del	NCBI36
NG_009060.1:g.32615_32620del , LRG_274:g.32615_32620del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2100_2103+2del
ENST00000559340.2:c.1705+783_1705+788del	ENSP00000453696.2:n.1705+783_1705+788del
ENST00000560467.2:c.1722_1725+2del
ENST00000558518.6:c.1842_1845+2del
ENST00000252444.9:c.2096_2099+2del
ENST00000455727.6:c.1338_1341+2del
ENST00000535915.5:c.1719_1722+2del
ENST00000545707.5:c.1461_1464+2del
ENST00000557933.5:c.1842_1845+2del
ENST00000558013.5:c.1842_1845+2del
ENST00000558518.5:c.1842_1845+2del
ENST00000559340.1:c.426+783_426+788del
NM_000527.4:c.1842_1845+2del , LRG_274t1:c.1842_1845+2del
NM_001195798.1:c.1842_1845+2del
NM_001195799.1:c.1719_1722+2del
NM_001195800.1:c.1338_1341+2del
NM_001195803.1:c.1461_1464+2del
XM_011528010.1:c.1842_1845+2del
XM_011528011.1:c.1461_1464+2del
XR_244074.2:n.1855+783_1855+788del
XM_011528010.2:c.1842_1845+2del
XR_001753685.2:n.1959_1962+2del
XR_001753686.2:n.1822+783_1822+788del
NM_000527.5:c.1842_1845+2del
NM_001195798.2:c.1842_1845+2del
NM_001195799.2:c.1719_1722+2del
NM_001195800.2:c.1338_1341+2del
NM_001195803.2:c.1461_1464+2del