Canonical Allele Identifier: CA2573320723

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113604_11113607delinsTTT , CM000681.2:g.11113604_11113607delinsTTT	GRCh38
NC_000019.9:g.11224280_11224283delinsTTT , CM000681.1:g.11224280_11224283delinsTTT	GRCh37
NC_000019.8:g.11085280_11085283delinsTTT	NCBI36
NG_009060.1:g.29224_29227delinsTTT , LRG_274:g.29224_29227delinsTTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1686_1689delinsTTT	ENSP00000252444.6:p.Asp563LeufsTer30
ENST00000559340.2:c.1428_1431delinsTTT	ENSP00000453696.2:p.Asp477LeufsTer30
ENST00000560467.2:c.1308_1311delinsTTT	ENSP00000453513.2:p.Asp437LeufsTer30
ENST00000558518.6:c.1428_1431delinsTTT MANE Select	ENSP00000454071.1:p.Asp477LeufsTer30
ENST00000252444.9:c.1682_1685delinsTTT
ENST00000455727.6:c.924_927delinsTTT	ENSP00000397829.2:p.Asp309LeufsTer30
ENST00000535915.5:c.1305_1308delinsTTT	ENSP00000440520.1:p.Asp436LeufsTer30
ENST00000545707.5:c.1047_1050delinsTTT	ENSP00000437639.1:p.Asp350LeufsTer30
ENST00000557933.5:c.1428_1431delinsTTT	ENSP00000453557.1:p.Asp477LeufsTer30
ENST00000558013.5:c.1428_1431delinsTTT	ENSP00000453346.1:p.Asp477LeufsTer30
ENST00000558518.5:c.1428_1431delinsTTT	ENSP00000454071.1:p.Asp477LeufsTer30
ENST00000559340.1:c.149_152delinsTTT
ENST00000560467.1:c.908_911delinsTTT
NM_000527.4:c.1428_1431delinsTTT , LRG_274t1:c.1428_1431delinsTTT	NP_000518.1:p.Asp477LeufsTer30
NM_001195798.1:c.1428_1431delinsTTT	NP_001182727.1:p.Asp477LeufsTer30
NM_001195799.1:c.1305_1308delinsTTT	NP_001182728.1:p.Asp436LeufsTer30
NM_001195800.1:c.924_927delinsTTT	NP_001182729.1:p.Asp309LeufsTer30
NM_001195803.1:c.1047_1050delinsTTT	NP_001182732.1:p.Asp350LeufsTer30
XM_011528010.1:c.1428_1431delinsTTT	XP_011526312.1:p.Asp477LeufsTer30
XM_011528011.1:c.1047_1050delinsTTT	XP_011526313.1:p.Asp350LeufsTer30
XR_244074.2:n.1578_1581delinsTTT
XM_011528010.2:c.1428_1431delinsTTT	XP_011526312.1:p.Asp477LeufsTer30
XR_001753685.2:n.1545_1548delinsTTT
XR_001753686.2:n.1545_1548delinsTTT
NM_000527.5:c.1428_1431delinsTTT MANE Select	NP_000518.1:p.Asp477LeufsTer30
NM_001195798.2:c.1428_1431delinsTTT	NP_001182727.1:p.Asp477LeufsTer30
NM_001195799.2:c.1305_1308delinsTTT	NP_001182728.1:p.Asp436LeufsTer30
NM_001195800.2:c.924_927delinsTTT	NP_001182729.1:p.Asp309LeufsTer30
NM_001195803.2:c.1047_1050delinsTTT	NP_001182732.1:p.Asp350LeufsTer30