Canonical Allele Identifier: CA2695223192

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105261_11105262insTTCC , CM000681.2:g.11105261_11105262insTTCC	GRCh38
NC_000019.9:g.11215937_11215938insTTCC , CM000681.1:g.11215937_11215938insTTCC	GRCh37
NC_000019.8:g.11076937_11076938insTTCC	NCBI36
NG_009060.1:g.20881_20882insTTCC , LRG_274:g.20881_20882insTTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.613_614insTTCC	ENSP00000252444.6:p.Gly205ValfsTer12
ENST00000559340.2:c.355_356insTTCC	ENSP00000453696.2:p.Gly119ValfsTer12
ENST00000560467.2:c.355_356insTTCC	ENSP00000453513.2:p.Gly119ValfsTer12
ENST00000558518.6:c.355_356insTTCC MANE Select	ENSP00000454071.1:p.Gly119ValfsTer12
ENST00000252444.9:c.609_610insTTCC
ENST00000455727.6:c.314-2131_314-2130insTTCC	ENSP00000397829.2:n.314-2131_314-2130insTTCC
ENST00000535915.5:c.232_233insTTCC	ENSP00000440520.1:p.Gly78ValfsTer12
ENST00000545707.5:c.314-1304_314-1303insTTCC	ENSP00000437639.1:n.314-1304_314-1303insTTCC
ENST00000557933.5:c.355_356insTTCC	ENSP00000453557.1:p.Gly119ValfsTer12
ENST00000558013.5:c.355_356insTTCC	ENSP00000453346.1:p.Gly119ValfsTer12
ENST00000558518.5:c.355_356insTTCC	ENSP00000454071.1:p.Gly119ValfsTer12
NM_000527.4:c.355_356insTTCC , LRG_274t1:c.355_356insTTCC	NP_000518.1:p.Gly119ValfsTer12
NM_001195798.1:c.355_356insTTCC	NP_001182727.1:p.Gly119ValfsTer12
NM_001195799.1:c.232_233insTTCC	NP_001182728.1:p.Gly78ValfsTer12
NM_001195800.1:c.314-2131_314-2130insTTCC	NP_001182729.1:n.314-2131_314-2130insTTCC
NM_001195803.1:c.314-1304_314-1303insTTCC	NP_001182732.1:n.314-1304_314-1303insTTCC
XM_011528010.1:c.355_356insTTCC	XP_011526312.1:p.Gly119ValfsTer12
XM_011528011.1:c.314-1304_314-1303insTTCC	XP_011526313.1:n.314-1304_314-1303insTTCC
XR_244074.2:n.505_506insTTCC
XM_011528010.2:c.355_356insTTCC	XP_011526312.1:p.Gly119ValfsTer12
XR_001753685.2:n.472_473insTTCC
XR_001753686.2:n.472_473insTTCC
NM_000527.5:c.355_356insTTCC MANE Select	NP_000518.1:p.Gly119ValfsTer12
NM_001195798.2:c.355_356insTTCC	NP_001182727.1:p.Gly119ValfsTer12
NM_001195799.2:c.232_233insTTCC	NP_001182728.1:p.Gly78ValfsTer12
NM_001195800.2:c.314-2131_314-2130insTTCC	NP_001182729.1:n.314-2131_314-2130insTTCC
NM_001195803.2:c.314-1304_314-1303insTTCC	NP_001182732.1:n.314-1304_314-1303insTTCC