Canonical Allele Identifier: CA2322779508
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128011_11128012delinsTG , CM000681.2:g.11128011_11128012delinsTG GRCh38
NC_000019.9:g.11238687_11238688delinsTG , CM000681.1:g.11238687_11238688delinsTG GRCh37
NC_000019.8:g.11099687_11099688delinsTG NCBI36
NG_009060.1:g.43631_43632delinsTG , LRG_274:g.43631_43632delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2573_2574delinsTG ENSP00000252444.6:p.Leu858=
ENST00000559340.2:c.*384_*385delinsTG ENSP00000453696.2:n.*384_*385delinsTG
ENST00000560467.2:c.2195_2196delinsTG ENSP00000453513.2:p.Leu732=
ENST00000558518.6:c.2315_2316delinsTG MANE Select ENSP00000454071.1:p.Leu772=
ENST00000252444.9:c.2569_2570delinsTG
ENST00000455727.6:c.1811_1812delinsTG ENSP00000397829.2:p.Leu604=
ENST00000535915.5:c.2192_2193delinsTG ENSP00000440520.1:p.Leu731=
ENST00000545707.5:c.1781_1782delinsTG ENSP00000437639.1:p.Leu594=
ENST00000557933.5:c.2315_2316delinsTG ENSP00000453557.1:p.Leu772=
ENST00000558013.5:c.2315_2316delinsTG ENSP00000453346.1:p.Leu772=
ENST00000558518.5:c.2315_2316delinsTG ENSP00000454071.1:p.Leu772=
ENST00000560628.1:n.108+357_108+358delinsTG
NM_000527.4:c.2315_2316delinsTG , LRG_274t1:c.2315_2316delinsTG NP_000518.1:p.Leu772=
NM_001195798.1:c.2315_2316delinsTG NP_001182727.1:p.Leu772=
NM_001195799.1:c.2192_2193delinsTG NP_001182728.1:p.Leu731=
NM_001195800.1:c.1811_1812delinsTG NP_001182729.1:p.Leu604=
NM_001195803.1:c.1781_1782delinsTG NP_001182732.1:p.Leu594=
XM_011528010.1:c.2312-1502_2312-1501delinsTG XP_011526312.1:n.2312-1502_2312-1501delinsTG
XM_011528011.1:c.1934_1935delinsTG XP_011526313.1:p.Leu645=
XR_244074.2:n.2325_2326delinsTG
XM_011528010.2:c.2312-1502_2312-1501delinsTG XP_011526312.1:n.2312-1502_2312-1501delinsTG
XR_001753685.2:n.2649_2650delinsTG
XR_001753686.2:n.2292_2293delinsTG
NM_000527.5:c.2315_2316delinsTG MANE Select NP_000518.1:p.Leu772=
NM_001195798.2:c.2315_2316delinsTG NP_001182727.1:p.Leu772=
NM_001195799.2:c.2192_2193delinsTG NP_001182728.1:p.Leu731=
NM_001195800.2:c.1811_1812delinsTG NP_001182729.1:p.Leu604=
NM_001195803.2:c.1781_1782delinsTG NP_001182732.1:p.Leu594=