Canonical Allele Identifier: CA1139666288

Gene: LDLR

Linked Data

• ClinVar Variation Id: 948222
• ClinVar RCV Id: RCV001219437

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11101932_11106610del , CM000681.2:g.11101932_11106610del	GRCh38
NC_000019.9:g.11212608_11217286del , CM000681.1:g.11212608_11217286del	GRCh37
NC_000019.8:g.11073608_11078286del	NCBI36
NG_009060.1:g.17552_22230del , LRG_274:g.17552_22230del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.449-732_998del
ENST00000559340.2:c.191-732_740del
ENST00000560467.2:c.191-732_740del
ENST00000558518.6:c.191-732_740del
ENST00000252444.9:c.445-732_994del
ENST00000455727.6:c.191-732_314-782del
ENST00000535915.5:c.190+1587_617del
ENST00000545707.5:c.191-732_359del
ENST00000557933.5:c.191-732_740del
ENST00000558013.5:c.191-732_740del
ENST00000558518.5:c.191-732_740del
NM_000527.4:c.191-732_740del , LRG_274t1:c.191-732_740del
NM_001195798.1:c.191-732_740del
NM_001195799.1:c.190+1587_617del
NM_001195800.1:c.191-732_314-782del
NM_001195803.1:c.191-732_359del
XM_011528010.1:c.191-732_740del
XM_011528011.1:c.191-732_359del
XR_244074.2:n.341-732_890del
XM_011528010.2:c.191-732_740del
XR_001753685.2:n.308-732_857del
XR_001753686.2:n.308-732_857del
NM_000527.5:c.191-732_740del
NM_001195798.2:c.191-732_740del
NM_001195799.2:c.190+1587_617del
NM_001195800.2:c.191-732_314-782del
NM_001195803.2:c.191-732_359del