Canonical Allele Identifier: CA658653702

Gene: LDLR

Linked Data

• ClinVar Variation Id: 441215
• ClinVar RCV Id: RCV000509166
• dbSNP Id: rs1555805930
• MyVariant Identifiers: chr19:g.11226765_11226801del (hg19) ; chr19:g.11116089_11116125del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116089_11116125del , CM000681.2:g.11116089_11116125del	GRCh38
NC_000019.9:g.11226765_11226801del , CM000681.1:g.11226765_11226801del	GRCh37
NC_000019.8:g.11087765_11087801del	NCBI36
NG_009060.1:g.31709_31745del , LRG_274:g.31709_31745del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1845-5_1876del
ENST00000559340.2:c.1587-5_1618del
ENST00000560467.2:c.1467-5_1498del
ENST00000558518.6:c.1587-5_1618del
ENST00000252444.9:c.1841-5_1872del
ENST00000455727.6:c.1083-5_1114del
ENST00000535915.5:c.1464-5_1495del
ENST00000545707.5:c.1206-5_1237del
ENST00000557933.5:c.1587-5_1618del
ENST00000558013.5:c.1587-5_1618del
ENST00000558518.5:c.1587-5_1618del
ENST00000559340.1:c.308-5_339del
NM_000527.4:c.1587-5_1618del , LRG_274t1:c.1587-5_1618del
NM_001195798.1:c.1587-5_1618del
NM_001195799.1:c.1464-5_1495del
NM_001195800.1:c.1083-5_1114del
NM_001195803.1:c.1206-5_1237del
XM_011528010.1:c.1587-5_1618del
XM_011528011.1:c.1206-5_1237del
XR_244074.2:n.1737-5_1768del
XM_011528010.2:c.1587-5_1618del
XR_001753685.2:n.1704-5_1735del
XR_001753686.2:n.1704-5_1735del
NM_000527.5:c.1587-5_1618del
NM_001195798.2:c.1587-5_1618del
NM_001195799.2:c.1464-5_1495del
NM_001195800.2:c.1083-5_1114del
NM_001195803.2:c.1206-5_1237del