Canonical Allele Identifier: CA2322770764

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111601_11111610delinsTCCAGCTGGA , CM000681.2:g.11111601_11111610delinsTCCAGCTGGA	GRCh38
NC_000019.9:g.11222277_11222286delinsTCCAGCTGGA , CM000681.1:g.11222277_11222286delinsTCCAGCTGGA	GRCh37
NC_000019.8:g.11083277_11083286delinsTCCAGCTGGA	NCBI36
NG_009060.1:g.27221_27230delinsTCCAGCTGGA , LRG_274:g.27221_27230delinsTCCAGCTGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1406_1415delinsTCCAGCTGGA	ENSP00000252444.6:p.Phe469=
ENST00000559340.2:c.1148_1157delinsTCCAGCTGGA	ENSP00000453696.2:p.Phe383=
ENST00000560467.2:c.1028_1037delinsTCCAGCTGGA	ENSP00000453513.2:p.Phe343=
ENST00000558518.6:c.1148_1157delinsTCCAGCTGGA MANE Select	ENSP00000454071.1:p.Phe383=
ENST00000252444.9:c.1402_1411delinsTCCAGCTGGA
ENST00000455727.6:c.644_653delinsTCCAGCTGGA	ENSP00000397829.2:p.Phe215=
ENST00000535915.5:c.1025_1034delinsTCCAGCTGGA	ENSP00000440520.1:p.Phe342=
ENST00000545707.5:c.767_776delinsTCCAGCTGGA	ENSP00000437639.1:p.Phe256=
ENST00000557933.5:c.1148_1157delinsTCCAGCTGGA	ENSP00000453557.1:p.Phe383=
ENST00000558013.5:c.1148_1157delinsTCCAGCTGGA	ENSP00000453346.1:p.Phe383=
ENST00000558518.5:c.1148_1157delinsTCCAGCTGGA	ENSP00000454071.1:p.Phe383=
ENST00000560173.1:n.147_156delinsTCCAGCTGGA
ENST00000560467.1:c.628_637delinsTCCAGCTGGA
NM_000527.4:c.1148_1157delinsTCCAGCTGGA , LRG_274t1:c.1148_1157delinsTCCAGCTGGA	NP_000518.1:p.Phe383=
NM_001195798.1:c.1148_1157delinsTCCAGCTGGA	NP_001182727.1:p.Phe383=
NM_001195799.1:c.1025_1034delinsTCCAGCTGGA	NP_001182728.1:p.Phe342=
NM_001195800.1:c.644_653delinsTCCAGCTGGA	NP_001182729.1:p.Phe215=
NM_001195803.1:c.767_776delinsTCCAGCTGGA	NP_001182732.1:p.Phe256=
XM_011528010.1:c.1148_1157delinsTCCAGCTGGA	XP_011526312.1:p.Phe383=
XM_011528011.1:c.767_776delinsTCCAGCTGGA	XP_011526313.1:p.Phe256=
XR_244074.2:n.1298_1307delinsTCCAGCTGGA
XM_011528010.2:c.1148_1157delinsTCCAGCTGGA	XP_011526312.1:p.Phe383=
XR_001753685.2:n.1265_1274delinsTCCAGCTGGA
XR_001753686.2:n.1265_1274delinsTCCAGCTGGA
NM_000527.5:c.1148_1157delinsTCCAGCTGGA MANE Select	NP_000518.1:p.Phe383=
NM_001195798.2:c.1148_1157delinsTCCAGCTGGA	NP_001182727.1:p.Phe383=
NM_001195799.2:c.1025_1034delinsTCCAGCTGGA	NP_001182728.1:p.Phe342=
NM_001195800.2:c.644_653delinsTCCAGCTGGA	NP_001182729.1:p.Phe215=
NM_001195803.2:c.767_776delinsTCCAGCTGGA	NP_001182732.1:p.Phe256=