Canonical Allele Identifier: CA2322767393

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105354_11105357delinsCCCG , CM000681.2:g.11105354_11105357delinsCCCG	GRCh38
NC_000019.9:g.11216030_11216033delinsCCCG , CM000681.1:g.11216030_11216033delinsCCCG	GRCh37
NC_000019.8:g.11077030_11077033delinsCCCG	NCBI36
NG_009060.1:g.20974_20977delinsCCCG , LRG_274:g.20974_20977delinsCCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.706_709delinsCCCG	ENSP00000252444.6:p.Pro236=
ENST00000559340.2:c.448_451delinsCCCG	ENSP00000453696.2:p.Pro150=
ENST00000560467.2:c.448_451delinsCCCG	ENSP00000453513.2:p.Pro150=
ENST00000558518.6:c.448_451delinsCCCG MANE Select	ENSP00000454071.1:p.Pro150=
ENST00000252444.9:c.702_705delinsCCCG
ENST00000455727.6:c.314-2038_314-2035delinsCCCG	ENSP00000397829.2:n.314-2038_314-2035delinsCCCG
ENST00000535915.5:c.325_328delinsCCCG	ENSP00000440520.1:p.Pro109=
ENST00000545707.5:c.314-1211_314-1208delinsCCCG	ENSP00000437639.1:n.314-1211_314-1208delinsCCCG
ENST00000557933.5:c.448_451delinsCCCG	ENSP00000453557.1:p.Pro150=
ENST00000558013.5:c.448_451delinsCCCG	ENSP00000453346.1:p.Pro150=
ENST00000558518.5:c.448_451delinsCCCG	ENSP00000454071.1:p.Pro150=
ENST00000560467.1:c.48_51delinsCCCG
NM_000527.4:c.448_451delinsCCCG , LRG_274t1:c.448_451delinsCCCG	NP_000518.1:p.Pro150=
NM_001195798.1:c.448_451delinsCCCG	NP_001182727.1:p.Pro150=
NM_001195799.1:c.325_328delinsCCCG	NP_001182728.1:p.Pro109=
NM_001195800.1:c.314-2038_314-2035delinsCCCG	NP_001182729.1:n.314-2038_314-2035delinsCCCG
NM_001195803.1:c.314-1211_314-1208delinsCCCG	NP_001182732.1:n.314-1211_314-1208delinsCCCG
XM_011528010.1:c.448_451delinsCCCG	XP_011526312.1:p.Pro150=
XM_011528011.1:c.314-1211_314-1208delinsCCCG	XP_011526313.1:n.314-1211_314-1208delinsCCCG
XR_244074.2:n.598_601delinsCCCG
XM_011528010.2:c.448_451delinsCCCG	XP_011526312.1:p.Pro150=
XR_001753685.2:n.565_568delinsCCCG
XR_001753686.2:n.565_568delinsCCCG
NM_000527.5:c.448_451delinsCCCG MANE Select	NP_000518.1:p.Pro150=
NM_001195798.2:c.448_451delinsCCCG	NP_001182727.1:p.Pro150=
NM_001195799.2:c.325_328delinsCCCG	NP_001182728.1:p.Pro109=
NM_001195800.2:c.314-2038_314-2035delinsCCCG	NP_001182729.1:n.314-2038_314-2035delinsCCCG
NM_001195803.2:c.314-1211_314-1208delinsCCCG	NP_001182732.1:n.314-1211_314-1208delinsCCCG