Canonical Allele Identifier: CA10576322

Gene: LDLR

Linked Data

• ClinVar Variation Id: 226298
• ClinVar RCV Id: RCV000211637
• MyVariant Identifiers: chr19:g.11228589_11233352del (hg19) ; chr19:g.11117913_11122676del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11117913_11122676del , CM000681.2:g.11117913_11122676del	GRCh38
NC_000019.9:g.11228589_11233352del , CM000681.1:g.11228589_11233352del	GRCh37
NC_000019.8:g.11089589_11094352del	NCBI36
NG_009060.1:g.33533_38296del , LRG_274:g.33533_38296del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2103+915_2399-498del
ENST00000559340.2:c.1705+1701_*210-498del
ENST00000560467.2:c.1725+915_2021-498del
ENST00000558518.6:c.1845+915_2141-498del
ENST00000252444.9:c.2099+915_2395-498del
ENST00000455727.6:c.1341+915_1637-498del
ENST00000535915.5:c.1722+915_2018-498del
ENST00000545707.5:c.1464+915_1607-498del
ENST00000557933.5:c.1845+915_2141-498del
ENST00000558013.5:c.1845+915_2141-498del
ENST00000558518.5:c.1845+915_2141-498del
NM_000527.4:c.1845+915_2141-498del , LRG_274t1:c.1845+915_2141-498del
NM_001195798.1:c.1845+915_2141-498del
NM_001195799.1:c.1722+915_2018-498del
NM_001195800.1:c.1341+915_1637-498del
NM_001195803.1:c.1464+915_1607-498del
XM_011528010.1:c.1845+915_2141-498del
XM_011528011.1:c.1464+915_1760-498del
XR_244074.2:n.1855+1701_2151-498del
XM_011528010.2:c.1845+915_2141-498del
XR_001753685.2:n.1962+915_2475-498del
XR_001753686.2:n.1822+1701_2118-498del
NM_000527.5:c.1845+915_2141-498del
NM_001195798.2:c.1845+915_2141-498del
NM_001195799.2:c.1722+915_2018-498del
NM_001195800.2:c.1341+915_1637-498del
NM_001195803.2:c.1464+915_1607-498del