Canonical Allele Identifier: CA2322767270

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105220_11105241delinsCCCCCAAGACGTGCTCCCAGGA , CM000681.2:g.11105220_11105241delinsCCCCCAAGACGTGCTCCCAGGA	GRCh38
NC_000019.9:g.11215896_11215917delinsCCCCCAAGACGTGCTCCCAGGA , CM000681.1:g.11215896_11215917delinsCCCCCAAGACGTGCTCCCAGGA	GRCh37
NC_000019.8:g.11076896_11076917delinsCCCCCAAGACGTGCTCCCAGGA	NCBI36
NG_009060.1:g.20840_20861delinsCCCCCAAGACGTGCTCCCAGGA , LRG_274:g.20840_20861delinsCCCCCAAGACGTGCTCCCAGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.572_593delinsCCCCCAAGACGTGCTCCCAGGA	ENSP00000252444.6:p.Pro191=
ENST00000559340.2:c.314_335delinsCCCCCAAGACGTGCTCCCAGGA	ENSP00000453696.2:p.Pro105=
ENST00000560467.2:c.314_335delinsCCCCCAAGACGTGCTCCCAGGA	ENSP00000453513.2:p.Pro105=
ENST00000558518.6:c.314_335delinsCCCCCAAGACGTGCTCCCAGGA MANE Select	ENSP00000454071.1:p.Pro105=
ENST00000252444.9:c.568_589delinsCCCCCAAGACGTGCTCCCAGGA
ENST00000455727.6:c.314-2172_314-2151delinsCCCCCAAGACGTGCTCCCAGGA	ENSP00000397829.2:n.314-2172_314-2151delinsCCCCCAAGACGTGCTCCC...
ENST00000535915.5:c.191_212delinsCCCCCAAGACGTGCTCCCAGGA	ENSP00000440520.1:p.Ser64=
ENST00000545707.5:c.314-1345_314-1324delinsCCCCCAAGACGTGCTCCCAGGA	ENSP00000437639.1:n.314-1345_314-1324delinsCCCCCAAGACGTGCTCCC...
ENST00000557933.5:c.314_335delinsCCCCCAAGACGTGCTCCCAGGA	ENSP00000453557.1:p.Pro105=
ENST00000558013.5:c.314_335delinsCCCCCAAGACGTGCTCCCAGGA	ENSP00000453346.1:p.Pro105=
ENST00000558518.5:c.314_335delinsCCCCCAAGACGTGCTCCCAGGA	ENSP00000454071.1:p.Pro105=
NM_000527.4:c.314_335delinsCCCCCAAGACGTGCTCCCAGGA , LRG_274t1:c.314_335delinsCCCCCAAGACGTGCTCCCAGGA	NP_000518.1:p.Pro105=
NM_001195798.1:c.314_335delinsCCCCCAAGACGTGCTCCCAGGA	NP_001182727.1:p.Pro105=
NM_001195799.1:c.191_212delinsCCCCCAAGACGTGCTCCCAGGA	NP_001182728.1:p.Ser64=
NM_001195800.1:c.314-2172_314-2151delinsCCCCCAAGACGTGCTCCCAGGA	NP_001182729.1:n.314-2172_314-2151delinsCCCCCAAGACGTGCTCCCAGG...
NM_001195803.1:c.314-1345_314-1324delinsCCCCCAAGACGTGCTCCCAGGA	NP_001182732.1:n.314-1345_314-1324delinsCCCCCAAGACGTGCTCCCAGG...
XM_011528010.1:c.314_335delinsCCCCCAAGACGTGCTCCCAGGA	XP_011526312.1:p.Pro105=
XM_011528011.1:c.314-1345_314-1324delinsCCCCCAAGACGTGCTCCCAGGA	XP_011526313.1:n.314-1345_314-1324delinsCCCCCAAGACGTGCTCCCAGG...
XR_244074.2:n.464_485delinsCCCCCAAGACGTGCTCCCAGGA
XM_011528010.2:c.314_335delinsCCCCCAAGACGTGCTCCCAGGA	XP_011526312.1:p.Pro105=
XR_001753685.2:n.431_452delinsCCCCCAAGACGTGCTCCCAGGA
XR_001753686.2:n.431_452delinsCCCCCAAGACGTGCTCCCAGGA
NM_000527.5:c.314_335delinsCCCCCAAGACGTGCTCCCAGGA MANE Select	NP_000518.1:p.Pro105=
NM_001195798.2:c.314_335delinsCCCCCAAGACGTGCTCCCAGGA	NP_001182727.1:p.Pro105=
NM_001195799.2:c.191_212delinsCCCCCAAGACGTGCTCCCAGGA	NP_001182728.1:p.Ser64=
NM_001195800.2:c.314-2172_314-2151delinsCCCCCAAGACGTGCTCCCAGGA	NP_001182729.1:n.314-2172_314-2151delinsCCCCCAAGACGTGCTCCCAGG...
NM_001195803.2:c.314-1345_314-1324delinsCCCCCAAGACGTGCTCCCAGGA	NP_001182732.1:n.314-1345_314-1324delinsCCCCCAAGACGTGCTCCCAGG...