Canonical Allele Identifier: CA10585823

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11125285_11132532dup , CM000681.2:g.11125285_11132532dup	GRCh38
NC_000019.9:g.11235961_11243208dup , CM000681.1:g.11235961_11243208dup	GRCh37
NC_000019.8:g.11096961_11104208dup	NCBI36
NG_009060.1:g.40905_48152dup , LRG_274:g.40905_48152dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2569+1941_*1216dup
ENST00000559340.2:c.*380+1941_*1868dup
ENST00000560467.2:c.2191+1941_*1216dup
ENST00000558518.6:c.2311+1941_*1216dup
ENST00000252444.9:c.2565+1941_4053dup
NM_000527.4:c.2311+1941_*1216dup , LRG_274t1:c.2311+1941_*1216dup
NM_001195798.1:c.2311+1941_*1216dup
NM_001195799.1:c.2188+1941_*1216dup
NM_001195800.1:c.1807+1941_*1216dup
NM_001195803.1:c.1777+1941_*1216dup
XM_011528010.1:c.2311+1941_*1216dup
XM_011528011.1:c.1930+1941_*1216dup
XM_011528010.2:c.2311+1941_*1216dup
XR_001753685.2:n.2645+1941_4133dup
XR_001753686.2:n.2288+1941_3776dup
NM_000527.5:c.2311+1941_*1216dup
NM_001195798.2:c.2311+1941_*1216dup
NM_001195799.2:c.2188+1941_*1216dup
NM_001195800.2:c.1807+1941_*1216dup
NM_001195803.2:c.1777+1941_*1216dup