Canonical Allele Identifier: CA2322777188

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123216_11123227delinsGGCTAAAGGTCA , CM000681.2:g.11123216_11123227delinsGGCTAAAGGTCA	GRCh38
NC_000019.9:g.11233892_11233903delinsGGCTAAAGGTCA , CM000681.1:g.11233892_11233903delinsGGCTAAAGGTCA	GRCh37
NC_000019.8:g.11094892_11094903delinsGGCTAAAGGTCA	NCBI36
NG_009060.1:g.38836_38847delinsGGCTAAAGGTCA , LRG_274:g.38836_38847delinsGGCTAAAGGTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2441_2452delinsGGCTAAAGGTCA	ENSP00000252444.6:p.Arg814=
ENST00000559340.2:c.*252_*263delinsGGCTAAAGGTCA	ENSP00000453696.2:n.*252_*263delinsGGCTAAAGGTCA
ENST00000560467.2:c.2063_2074delinsGGCTAAAGGTCA	ENSP00000453513.2:p.Arg688=
ENST00000558518.6:c.2183_2194delinsGGCTAAAGGTCA MANE Select	ENSP00000454071.1:p.Arg728=
ENST00000252444.9:c.2437_2448delinsGGCTAAAGGTCA
ENST00000455727.6:c.1679_1690delinsGGCTAAAGGTCA	ENSP00000397829.2:p.Arg560=
ENST00000535915.5:c.2060_2071delinsGGCTAAAGGTCA	ENSP00000440520.1:p.Arg687=
ENST00000545707.5:c.1649_1660delinsGGCTAAAGGTCA	ENSP00000437639.1:p.Arg550=
ENST00000557933.5:c.2183_2194delinsGGCTAAAGGTCA	ENSP00000453557.1:p.Arg728=
ENST00000558013.5:c.2183_2194delinsGGCTAAAGGTCA	ENSP00000453346.1:p.Arg728=
ENST00000558518.5:c.2183_2194delinsGGCTAAAGGTCA	ENSP00000454071.1:p.Arg728=
NM_000527.4:c.2183_2194delinsGGCTAAAGGTCA , LRG_274t1:c.2183_2194delinsGGCTAAAGGTCA	NP_000518.1:p.Arg728=
NM_001195798.1:c.2183_2194delinsGGCTAAAGGTCA	NP_001182727.1:p.Arg728=
NM_001195799.1:c.2060_2071delinsGGCTAAAGGTCA	NP_001182728.1:p.Arg687=
NM_001195800.1:c.1679_1690delinsGGCTAAAGGTCA	NP_001182729.1:p.Arg560=
NM_001195803.1:c.1649_1660delinsGGCTAAAGGTCA	NP_001182732.1:p.Arg550=
XM_011528010.1:c.2183_2194delinsGGCTAAAGGTCA	XP_011526312.1:p.Arg728=
XM_011528011.1:c.1802_1813delinsGGCTAAAGGTCA	XP_011526313.1:p.Arg601=
XR_244074.2:n.2193_2204delinsGGCTAAAGGTCA
XM_011528010.2:c.2183_2194delinsGGCTAAAGGTCA	XP_011526312.1:p.Arg728=
XR_001753685.2:n.2517_2528delinsGGCTAAAGGTCA
XR_001753686.2:n.2160_2171delinsGGCTAAAGGTCA
NM_000527.5:c.2183_2194delinsGGCTAAAGGTCA MANE Select	NP_000518.1:p.Arg728=
NM_001195798.2:c.2183_2194delinsGGCTAAAGGTCA	NP_001182727.1:p.Arg728=
NM_001195799.2:c.2060_2071delinsGGCTAAAGGTCA	NP_001182728.1:p.Arg687=
NM_001195800.2:c.1679_1690delinsGGCTAAAGGTCA	NP_001182729.1:p.Arg560=
NM_001195803.2:c.1649_1660delinsGGCTAAAGGTCA	NP_001182732.1:p.Arg550=