Canonical Allele Identifier: CA2322768143
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11106570_11106571delinsGC , CM000681.2:g.11106570_11106571delinsGC GRCh38
NC_000019.9:g.11217246_11217247delinsGC , CM000681.1:g.11217246_11217247delinsGC GRCh37
NC_000019.8:g.11078246_11078247delinsGC NCBI36
NG_009060.1:g.22190_22191delinsGC , LRG_274:g.22190_22191delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.958_959delinsGC ENSP00000252444.6:p.Ala320=
ENST00000559340.2:c.700_701delinsGC ENSP00000453696.2:p.Ala234=
ENST00000560467.2:c.700_701delinsGC ENSP00000453513.2:p.Ala234=
ENST00000558518.6:c.700_701delinsGC MANE Select ENSP00000454071.1:p.Ala234=
ENST00000252444.9:c.954_955delinsGC
ENST00000455727.6:c.314-822_314-821delinsGC ENSP00000397829.2:n.314-822_314-821delinsGC
ENST00000535915.5:c.577_578delinsGC ENSP00000440520.1:p.Ala193=
ENST00000545707.5:c.319_320delinsGC ENSP00000437639.1:p.Ala107=
ENST00000557933.5:c.700_701delinsGC ENSP00000453557.1:p.Ala234=
ENST00000558013.5:c.700_701delinsGC ENSP00000453346.1:p.Ala234=
ENST00000558518.5:c.700_701delinsGC ENSP00000454071.1:p.Ala234=
ENST00000558528.1:n.215_216delinsGC
ENST00000560467.1:c.300_301delinsGC
NM_000527.4:c.700_701delinsGC , LRG_274t1:c.700_701delinsGC NP_000518.1:p.Ala234=
NM_001195798.1:c.700_701delinsGC NP_001182727.1:p.Ala234=
NM_001195799.1:c.577_578delinsGC NP_001182728.1:p.Ala193=
NM_001195800.1:c.314-822_314-821delinsGC NP_001182729.1:n.314-822_314-821delinsGC
NM_001195803.1:c.319_320delinsGC NP_001182732.1:p.Ala107=
XM_011528010.1:c.700_701delinsGC XP_011526312.1:p.Ala234=
XM_011528011.1:c.319_320delinsGC XP_011526313.1:p.Ala107=
XR_244074.2:n.850_851delinsGC
XM_011528010.2:c.700_701delinsGC XP_011526312.1:p.Ala234=
XR_001753685.2:n.817_818delinsGC
XR_001753686.2:n.817_818delinsGC
NM_000527.5:c.700_701delinsGC MANE Select NP_000518.1:p.Ala234=
NM_001195798.2:c.700_701delinsGC NP_001182727.1:p.Ala234=
NM_001195799.2:c.577_578delinsGC NP_001182728.1:p.Ala193=
NM_001195800.2:c.314-822_314-821delinsGC NP_001182729.1:n.314-822_314-821delinsGC
NM_001195803.2:c.319_320delinsGC NP_001182732.1:p.Ala107=