Canonical Allele Identifier: CA2573050615

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120137_11124409delinsCTCAGCACTTTGGG , CM000681.2:g.11120137_11124409delinsCTCAGCACTTTGGG	GRCh38
NC_000019.9:g.11230813_11235085delinsCTCAGCACTTTGGG , CM000681.1:g.11230813_11235085delinsCTCAGCACTTTGGG	GRCh37
NC_000019.8:g.11091813_11096085delinsCTCAGCACTTTGGG	NCBI36
NG_009060.1:g.35757_40029delinsCTCAGCACTTTGGG , LRG_274:g.35757_40029delinsCTCAGCACTTTGGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2149_2569+1065delinsCTCAGCACTTTGGG
ENST00000559340.2:c.1751_*380+1065delinsCTCAGCACTTTGGG
ENST00000560467.2:c.1771_2191+1065delinsCTCAGCACTTTGGG
ENST00000558518.6:c.1891_2311+1065delinsCTCAGCACTTTGGG
ENST00000252444.9:c.2145_2565+1065delinsCTCAGCACTTTGGG
ENST00000455727.6:c.1387_1807+1065delinsCTCAGCACTTTGGG
ENST00000535915.5:c.1768_2188+1065delinsCTCAGCACTTTGGG
ENST00000545707.5:c.1510_1777+1065delinsCTCAGCACTTTGGG
ENST00000557933.5:c.1891_2311+1065delinsCTCAGCACTTTGGG
ENST00000558013.5:c.1891_2311+1065delinsCTCAGCACTTTGGG
ENST00000558518.5:c.1891_2311+1065delinsCTCAGCACTTTGGG
NM_000527.4:c.1891_2311+1065delinsCTCAGCACTTTGGG , LRG_274t1:c.1891_2311+1065delinsCTCAGCACTTTGGG
NM_001195798.1:c.1891_2311+1065delinsCTCAGCACTTTGGG
NM_001195799.1:c.1768_2188+1065delinsCTCAGCACTTTGGG
NM_001195800.1:c.1387_1807+1065delinsCTCAGCACTTTGGG
NM_001195803.1:c.1510_1777+1065delinsCTCAGCACTTTGGG
XM_011528010.1:c.1891_2311+1065delinsCTCAGCACTTTGGG
XM_011528011.1:c.1510_1930+1065delinsCTCAGCACTTTGGG
XR_244074.2:n.1901_2321+1065delinsCTCAGCACTTTGGG
XM_011528010.2:c.1891_2311+1065delinsCTCAGCACTTTGGG
XR_001753685.2:n.2008_2645+1065delinsCTCAGCACTTTGGG
XR_001753686.2:n.1868_2288+1065delinsCTCAGCACTTTGGG
NM_000527.5:c.1891_2311+1065delinsCTCAGCACTTTGGG
NM_001195798.2:c.1891_2311+1065delinsCTCAGCACTTTGGG
NM_001195799.2:c.1768_2188+1065delinsCTCAGCACTTTGGG
NM_001195800.2:c.1387_1807+1065delinsCTCAGCACTTTGGG
NM_001195803.2:c.1510_1777+1065delinsCTCAGCACTTTGGG