Canonical Allele Identifier: CA2322766040
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11102745_11102746delinsGC , CM000681.2:g.11102745_11102746delinsGC GRCh38
NC_000019.9:g.11213421_11213422delinsGC , CM000681.1:g.11213421_11213422delinsGC GRCh37
NC_000019.8:g.11074421_11074422delinsGC NCBI36
NG_009060.1:g.18365_18366delinsGC , LRG_274:g.18365_18366delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.530_531delinsGC ENSP00000252444.6:p.Gly177=
ENST00000559340.2:c.272_273delinsGC ENSP00000453696.2:p.Gly91=
ENST00000560467.2:c.272_273delinsGC ENSP00000453513.2:p.Gly91=
ENST00000558518.6:c.272_273delinsGC MANE Select ENSP00000454071.1:p.Gly91=
ENST00000252444.9:c.526_527delinsGC
ENST00000455727.6:c.272_273delinsGC ENSP00000397829.2:p.Gly91=
ENST00000535915.5:c.190+2400_190+2401delinsGC ENSP00000440520.1:n.190+2400_190+2401delinsGC
ENST00000545707.5:c.272_273delinsGC ENSP00000437639.1:p.Gly91=
ENST00000557933.5:c.272_273delinsGC ENSP00000453557.1:p.Gly91=
ENST00000557958.1:n.358_359delinsGC
ENST00000558013.5:c.272_273delinsGC ENSP00000453346.1:p.Gly91=
ENST00000558518.5:c.272_273delinsGC ENSP00000454071.1:p.Gly91=
NM_000527.4:c.272_273delinsGC , LRG_274t1:c.272_273delinsGC NP_000518.1:p.Gly91=
NM_001195798.1:c.272_273delinsGC NP_001182727.1:p.Gly91=
NM_001195799.1:c.190+2400_190+2401delinsGC NP_001182728.1:n.190+2400_190+2401delinsGC
NM_001195800.1:c.272_273delinsGC NP_001182729.1:p.Gly91=
NM_001195803.1:c.272_273delinsGC NP_001182732.1:p.Gly91=
XM_011528010.1:c.272_273delinsGC XP_011526312.1:p.Gly91=
XM_011528011.1:c.272_273delinsGC XP_011526313.1:p.Gly91=
XR_244074.2:n.422_423delinsGC
XM_011528010.2:c.272_273delinsGC XP_011526312.1:p.Gly91=
XR_001753685.2:n.389_390delinsGC
XR_001753686.2:n.389_390delinsGC
NM_000527.5:c.272_273delinsGC MANE Select NP_000518.1:p.Gly91=
NM_001195798.2:c.272_273delinsGC NP_001182727.1:p.Gly91=
NM_001195799.2:c.190+2400_190+2401delinsGC NP_001182728.1:n.190+2400_190+2401delinsGC
NM_001195800.2:c.272_273delinsGC NP_001182729.1:p.Gly91=
NM_001195803.2:c.272_273delinsGC NP_001182732.1:p.Gly91=