Canonical Allele Identifier: CA2573054703

Gene: LDLR

Linked Data

• dbSNP Id: rs2147229244

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11106688_11106689insCTG , CM000681.2:g.11106688_11106689insCTG	GRCh38
NC_000019.9:g.11217364_11217365insCTG , CM000681.1:g.11217364_11217365insCTG	GRCh37
NC_000019.8:g.11078364_11078365insCTG	NCBI36
NG_009060.1:g.22308_22309insCTG , LRG_274:g.22308_22309insCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1075+1_1075+2insCTG	ENSP00000252444.6:n.1075+1_1075+2insCTG
ENST00000559340.2:c.817+1_817+2insCTG	ENSP00000453696.2:n.817+1_817+2insCTG
ENST00000560467.2:c.817+1_817+2insCTG	ENSP00000453513.2:n.817+1_817+2insCTG
ENST00000558518.6:c.817+1_817+2insCTG MANE Select	ENSP00000454071.1:n.817+1_817+2insCTG
ENST00000252444.9:c.1071+1_1071+2insCTG
ENST00000455727.6:c.314-704_314-703insCTG	ENSP00000397829.2:n.314-704_314-703insCTG
ENST00000535915.5:c.694+1_694+2insCTG	ENSP00000440520.1:n.694+1_694+2insCTG
ENST00000545707.5:c.436+1_436+2insCTG	ENSP00000437639.1:n.436+1_436+2insCTG
ENST00000557933.5:c.817+1_817+2insCTG	ENSP00000453557.1:n.817+1_817+2insCTG
ENST00000558013.5:c.817+1_817+2insCTG	ENSP00000453346.1:n.817+1_817+2insCTG
ENST00000558518.5:c.817+1_817+2insCTG	ENSP00000454071.1:n.817+1_817+2insCTG
ENST00000558528.1:n.332+1_332+2insCTG
ENST00000560467.1:c.417+1_417+2insCTG
NM_000527.4:c.817+1_817+2insCTG , LRG_274t1:c.817+1_817+2insCTG	NP_000518.1:n.817+1_817+2insCTG
NM_001195798.1:c.817+1_817+2insCTG	NP_001182727.1:n.817+1_817+2insCTG
NM_001195799.1:c.694+1_694+2insCTG	NP_001182728.1:n.694+1_694+2insCTG
NM_001195800.1:c.314-704_314-703insCTG	NP_001182729.1:n.314-704_314-703insCTG
NM_001195803.1:c.436+1_436+2insCTG	NP_001182732.1:n.436+1_436+2insCTG
XM_011528010.1:c.817+1_817+2insCTG	XP_011526312.1:n.817+1_817+2insCTG
XM_011528011.1:c.436+1_436+2insCTG	XP_011526313.1:n.436+1_436+2insCTG
XR_244074.2:n.967+1_967+2insCTG
XM_011528010.2:c.817+1_817+2insCTG	XP_011526312.1:n.817+1_817+2insCTG
XR_001753685.2:n.934+1_934+2insCTG
XR_001753686.2:n.934+1_934+2insCTG
NM_000527.5:c.817+1_817+2insCTG MANE Select	NP_000518.1:n.817+1_817+2insCTG
NM_001195798.2:c.817+1_817+2insCTG	NP_001182727.1:n.817+1_817+2insCTG
NM_001195799.2:c.694+1_694+2insCTG	NP_001182728.1:n.694+1_694+2insCTG
NM_001195800.2:c.314-704_314-703insCTG	NP_001182729.1:n.314-704_314-703insCTG
NM_001195803.2:c.436+1_436+2insCTG	NP_001182732.1:n.436+1_436+2insCTG