Canonical Allele Identifier: CA2322767332

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105284_11105285delinsCG , CM000681.2:g.11105284_11105285delinsCG	GRCh38
NC_000019.9:g.11215960_11215961delinsCG , CM000681.1:g.11215960_11215961delinsCG	GRCh37
NC_000019.8:g.11076960_11076961delinsCG	NCBI36
NG_009060.1:g.20904_20905delinsCG , LRG_274:g.20904_20905delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.636_637delinsCG	ENSP00000252444.6:p.Phe212=
ENST00000559340.2:c.378_379delinsCG	ENSP00000453696.2:p.Phe126=
ENST00000560467.2:c.378_379delinsCG	ENSP00000453513.2:p.Phe126=
ENST00000558518.6:c.378_379delinsCG MANE Select	ENSP00000454071.1:p.Phe126=
ENST00000252444.9:c.632_633delinsCG
ENST00000455727.6:c.314-2108_314-2107delinsCG	ENSP00000397829.2:n.314-2108_314-2107delinsCG
ENST00000535915.5:c.255_256delinsCG	ENSP00000440520.1:p.Phe85=
ENST00000545707.5:c.314-1281_314-1280delinsCG	ENSP00000437639.1:n.314-1281_314-1280delinsCG
ENST00000557933.5:c.378_379delinsCG	ENSP00000453557.1:p.Phe126=
ENST00000558013.5:c.378_379delinsCG	ENSP00000453346.1:p.Phe126=
ENST00000558518.5:c.378_379delinsCG	ENSP00000454071.1:p.Phe126=
NM_000527.4:c.378_379delinsCG , LRG_274t1:c.378_379delinsCG	NP_000518.1:p.Phe126=
NM_001195798.1:c.378_379delinsCG	NP_001182727.1:p.Phe126=
NM_001195799.1:c.255_256delinsCG	NP_001182728.1:p.Phe85=
NM_001195800.1:c.314-2108_314-2107delinsCG	NP_001182729.1:n.314-2108_314-2107delinsCG
NM_001195803.1:c.314-1281_314-1280delinsCG	NP_001182732.1:n.314-1281_314-1280delinsCG
XM_011528010.1:c.378_379delinsCG	XP_011526312.1:p.Phe126=
XM_011528011.1:c.314-1281_314-1280delinsCG	XP_011526313.1:n.314-1281_314-1280delinsCG
XR_244074.2:n.528_529delinsCG
XM_011528010.2:c.378_379delinsCG	XP_011526312.1:p.Phe126=
XR_001753685.2:n.495_496delinsCG
XR_001753686.2:n.495_496delinsCG
NM_000527.5:c.378_379delinsCG MANE Select	NP_000518.1:p.Phe126=
NM_001195798.2:c.378_379delinsCG	NP_001182727.1:p.Phe126=
NM_001195799.2:c.255_256delinsCG	NP_001182728.1:p.Phe85=
NM_001195800.2:c.314-2108_314-2107delinsCG	NP_001182729.1:n.314-2108_314-2107delinsCG
NM_001195803.2:c.314-1281_314-1280delinsCG	NP_001182732.1:n.314-1281_314-1280delinsCG