Canonical Allele Identifier: CA2322779528

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11128031_11128049delinsGGAAATGAGAAGAAGCCCA , CM000681.2:g.11128031_11128049delinsGGAAATGAGAAGAAGCCCA	GRCh38
NC_000019.9:g.11238707_11238725delinsGGAAATGAGAAGAAGCCCA , CM000681.1:g.11238707_11238725delinsGGAAATGAGAAGAAGCCCA	GRCh37
NC_000019.8:g.11099707_11099725delinsGGAAATGAGAAGAAGCCCA	NCBI36
NG_009060.1:g.43651_43669delinsGGAAATGAGAAGAAGCCCA , LRG_274:g.43651_43669delinsGGAAATGAGAAGAAGCCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2593_2611delinsGGAAATGAGAAGAAGCCCA	ENSP00000252444.6:p.Gly865=
ENST00000559340.2:c.*404_*422delinsGGAAATGAGAAGAAGCCCA	ENSP00000453696.2:n.*404_*422delinsGGAAATGAGAAGAAGCCCA
ENST00000560467.2:c.2215_2233delinsGGAAATGAGAAGAAGCCCA	ENSP00000453513.2:p.Gly739=
ENST00000558518.6:c.2335_2353delinsGGAAATGAGAAGAAGCCCA MANE Select	ENSP00000454071.1:p.Gly779=
ENST00000252444.9:c.2589_2607delinsGGAAATGAGAAGAAGCCCA
ENST00000455727.6:c.1831_1849delinsGGAAATGAGAAGAAGCCCA	ENSP00000397829.2:p.Gly611=
ENST00000535915.5:c.2212_2230delinsGGAAATGAGAAGAAGCCCA	ENSP00000440520.1:p.Gly738=
ENST00000545707.5:c.1801_1819delinsGGAAATGAGAAGAAGCCCA	ENSP00000437639.1:p.Gly601=
ENST00000557933.5:c.2335_2353delinsGGAAATGAGAAGAAGCCCA	ENSP00000453557.1:p.Gly779=
ENST00000558013.5:c.2335_2353delinsGGAAATGAGAAGAAGCCCA	ENSP00000453346.1:p.Gly779=
ENST00000558518.5:c.2335_2353delinsGGAAATGAGAAGAAGCCCA	ENSP00000454071.1:p.Gly779=
ENST00000560628.1:n.108+377_108+395delinsGGAAATGAGAAGAAGCCCA
NM_000527.4:c.2335_2353delinsGGAAATGAGAAGAAGCCCA , LRG_274t1:c.2335_2353delinsGGAAATGAGAAGAAGCCCA	NP_000518.1:p.Gly779=
NM_001195798.1:c.2335_2353delinsGGAAATGAGAAGAAGCCCA	NP_001182727.1:p.Gly779=
NM_001195799.1:c.2212_2230delinsGGAAATGAGAAGAAGCCCA	NP_001182728.1:p.Gly738=
NM_001195800.1:c.1831_1849delinsGGAAATGAGAAGAAGCCCA	NP_001182729.1:p.Gly611=
NM_001195803.1:c.1801_1819delinsGGAAATGAGAAGAAGCCCA	NP_001182732.1:p.Gly601=
XM_011528010.1:c.2312-1482_2312-1464delinsGGAAATGAGAAGAAGCCCA	XP_011526312.1:n.2312-1482_2312-1464delinsGGAAATGAGAAGAAGCCCA...
XM_011528011.1:c.1954_1972delinsGGAAATGAGAAGAAGCCCA	XP_011526313.1:p.Gly652=
XR_244074.2:n.2345_2363delinsGGAAATGAGAAGAAGCCCA
XM_011528010.2:c.2312-1482_2312-1464delinsGGAAATGAGAAGAAGCCCA	XP_011526312.1:n.2312-1482_2312-1464delinsGGAAATGAGAAGAAGCCCA...
XR_001753685.2:n.2669_2687delinsGGAAATGAGAAGAAGCCCA
XR_001753686.2:n.2312_2330delinsGGAAATGAGAAGAAGCCCA
NM_000527.5:c.2335_2353delinsGGAAATGAGAAGAAGCCCA MANE Select	NP_000518.1:p.Gly779=
NM_001195798.2:c.2335_2353delinsGGAAATGAGAAGAAGCCCA	NP_001182727.1:p.Gly779=
NM_001195799.2:c.2212_2230delinsGGAAATGAGAAGAAGCCCA	NP_001182728.1:p.Gly738=
NM_001195800.2:c.1831_1849delinsGGAAATGAGAAGAAGCCCA	NP_001182729.1:p.Gly611=
NM_001195803.2:c.1801_1819delinsGGAAATGAGAAGAAGCCCA	NP_001182732.1:p.Gly601=