Canonical Allele Identifier: CA2695195457

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105601_11106564dup , CM000681.2:g.11105601_11106564dup	GRCh38
NC_000019.9:g.11216277_11217240dup , CM000681.1:g.11216277_11217240dup	GRCh37
NC_000019.8:g.11077277_11078240dup	NCBI36
NG_009060.1:g.21221_22184dup , LRG_274:g.21221_22184dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.952+1_953-1dup
ENST00000559340.2:c.694+1_695-1dup
ENST00000560467.2:c.694+1_695-1dup
ENST00000558518.6:c.694+1_695-1dup
ENST00000252444.9:c.948+1_949-1dup
ENST00000455727.6:c.314-1791_314-828dup	ENSP00000397829.2:n.314-1791_314-828dup
ENST00000535915.5:c.571+1_572-1dup
ENST00000545707.5:c.314-964_314-1dup	ENSP00000437639.1:n.314-964_314-1dup
ENST00000557933.5:c.694+1_695-1dup
ENST00000558013.5:c.694+1_695-1dup
ENST00000558518.5:c.694+1_695-1dup
ENST00000560467.1:c.294+1_295-1dup
NM_000527.4:c.694+1_695-1dup , LRG_274t1:c.694+1_695-1dup
NM_001195798.1:c.694+1_695-1dup
NM_001195799.1:c.571+1_572-1dup
NM_001195800.1:c.314-1791_314-828dup	NP_001182729.1:n.314-1791_314-828dup
NM_001195803.1:c.314-964_314-1dup	NP_001182732.1:n.314-964_314-1dup
XM_011528010.1:c.694+1_695-1dup
XM_011528011.1:c.314-964_314-1dup	XP_011526313.1:n.314-964_314-1dup
XR_244074.2:n.844+1_845-1dup
XM_011528010.2:c.694+1_695-1dup
XR_001753685.2:n.811+1_812-1dup
XR_001753686.2:n.811+1_812-1dup
NM_000527.5:c.694+1_695-1dup
NM_001195798.2:c.694+1_695-1dup
NM_001195799.2:c.571+1_572-1dup
NM_001195800.2:c.314-1791_314-828dup	NP_001182729.1:n.314-1791_314-828dup
NM_001195803.2:c.314-964_314-1dup	NP_001182732.1:n.314-964_314-1dup