Canonical Allele Identifier: CA2322767593

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105566_11105584delinsCGACTGCAAGGACAAATCT , CM000681.2:g.11105566_11105584delinsCGACTGCAAGGACAAATCT	GRCh38
NC_000019.9:g.11216242_11216260delinsCGACTGCAAGGACAAATCT , CM000681.1:g.11216242_11216260delinsCGACTGCAAGGACAAATCT	GRCh37
NC_000019.8:g.11077242_11077260delinsCGACTGCAAGGACAAATCT	NCBI36
NG_009060.1:g.21186_21204delinsCGACTGCAAGGACAAATCT , LRG_274:g.21186_21204delinsCGACTGCAAGGACAAATCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.918_936delinsCGACTGCAAGGACAAATCT	ENSP00000252444.6:p.Pro306=
ENST00000559340.2:c.660_678delinsCGACTGCAAGGACAAATCT	ENSP00000453696.2:p.Pro220=
ENST00000560467.2:c.660_678delinsCGACTGCAAGGACAAATCT	ENSP00000453513.2:p.Pro220=
ENST00000558518.6:c.660_678delinsCGACTGCAAGGACAAATCT MANE Select	ENSP00000454071.1:p.Pro220=
ENST00000252444.9:c.914_932delinsCGACTGCAAGGACAAATCT
ENST00000455727.6:c.314-1826_314-1808delinsCGACTGCAAGGACAAATCT	ENSP00000397829.2:n.314-1826_314-1808deli...
ENST00000535915.5:c.537_555delinsCGACTGCAAGGACAAATCT	ENSP00000440520.1:p.Pro179=
ENST00000545707.5:c.314-999_314-981delinsCGACTGCAAGGACAAATCT	ENSP00000437639.1:n.314-999_314-981delins...
ENST00000557933.5:c.660_678delinsCGACTGCAAGGACAAATCT	ENSP00000453557.1:p.Pro220=
ENST00000558013.5:c.660_678delinsCGACTGCAAGGACAAATCT	ENSP00000453346.1:p.Pro220=
ENST00000558518.5:c.660_678delinsCGACTGCAAGGACAAATCT	ENSP00000454071.1:p.Pro220=
ENST00000560467.1:c.260_278delinsCGACTGCAAGGACAAATCT
NM_000527.4:c.660_678delinsCGACTGCAAGGACAAATCT , LRG_274t1:c.660_678delinsCGACTGCAAGGACAAATCT	NP_000518.1:p.Pro220=
NM_001195798.1:c.660_678delinsCGACTGCAAGGACAAATCT	NP_001182727.1:p.Pro220=
NM_001195799.1:c.537_555delinsCGACTGCAAGGACAAATCT	NP_001182728.1:p.Pro179=
NM_001195800.1:c.314-1826_314-1808delinsCGACTGCAAGGACAAATCT	NP_001182729.1:n.314-1826_314-1808delinsC...
NM_001195803.1:c.314-999_314-981delinsCGACTGCAAGGACAAATCT	NP_001182732.1:n.314-999_314-981delinsCGA...
XM_011528010.1:c.660_678delinsCGACTGCAAGGACAAATCT	XP_011526312.1:p.Pro220=
XM_011528011.1:c.314-999_314-981delinsCGACTGCAAGGACAAATCT	XP_011526313.1:n.314-999_314-981delinsCGA...
XR_244074.2:n.810_828delinsCGACTGCAAGGACAAATCT
XM_011528010.2:c.660_678delinsCGACTGCAAGGACAAATCT	XP_011526312.1:p.Pro220=
XR_001753685.2:n.777_795delinsCGACTGCAAGGACAAATCT
XR_001753686.2:n.777_795delinsCGACTGCAAGGACAAATCT
NM_000527.5:c.660_678delinsCGACTGCAAGGACAAATCT MANE Select	NP_000518.1:p.Pro220=
NM_001195798.2:c.660_678delinsCGACTGCAAGGACAAATCT	NP_001182727.1:p.Pro220=
NM_001195799.2:c.537_555delinsCGACTGCAAGGACAAATCT	NP_001182728.1:p.Pro179=
NM_001195800.2:c.314-1826_314-1808delinsCGACTGCAAGGACAAATCT	NP_001182729.1:n.314-1826_314-1808delinsC...
NM_001195803.2:c.314-999_314-981delinsCGACTGCAAGGACAAATCT	NP_001182732.1:n.314-999_314-981delinsCGA...