Canonical Allele Identifier: CA2322780269
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129540_11129544delinsTCTTC , CM000681.2:g.11129540_11129544delinsTCTTC GRCh38
NC_000019.9:g.11240216_11240220delinsTCTTC , CM000681.1:g.11240216_11240220delinsTCTTC GRCh37
NC_000019.8:g.11101216_11101220delinsTCTTC NCBI36
NG_009060.1:g.45160_45164delinsTCTTC , LRG_274:g.45160_45164delinsTCTTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2675_2679delinsTCTTC ENSP00000252444.6:p.Val892=
ENST00000559340.2:c.*486_*490delinsTCTTC ENSP00000453696.2:n.*486_*490delinsTCTTC
ENST00000560467.2:c.2297_2301delinsTCTTC ENSP00000453513.2:p.Val766=
ENST00000558518.6:c.2417_2421delinsTCTTC MANE Select ENSP00000454071.1:p.Val806=
ENST00000252444.9:c.2671_2675delinsTCTTC
ENST00000455727.6:c.1913_1917delinsTCTTC ENSP00000397829.2:p.Val638=
ENST00000535915.5:c.2294_2298delinsTCTTC ENSP00000440520.1:p.Val765=
ENST00000545707.5:c.1883_1887delinsTCTTC ENSP00000437639.1:p.Val628=
ENST00000557933.5:c.2479_2483delinsTCTTC ENSP00000453557.1:p.Ser827=
ENST00000558013.5:c.2417_2421delinsTCTTC ENSP00000453346.1:p.Val806=
ENST00000558518.5:c.2417_2421delinsTCTTC ENSP00000454071.1:p.Val806=
ENST00000560628.1:n.108+1886_108+1890delinsTCTTC
NM_000527.4:c.2417_2421delinsTCTTC , LRG_274t1:c.2417_2421delinsTCTTC NP_000518.1:p.Val806=
NM_001195798.1:c.2417_2421delinsTCTTC NP_001182727.1:p.Val806=
NM_001195799.1:c.2294_2298delinsTCTTC NP_001182728.1:p.Val765=
NM_001195800.1:c.1913_1917delinsTCTTC NP_001182729.1:p.Val638=
NM_001195803.1:c.1883_1887delinsTCTTC NP_001182732.1:p.Val628=
XM_011528010.1:c.2339_2343delinsTCTTC XP_011526312.1:p.Val780=
XM_011528011.1:c.2036_2040delinsTCTTC XP_011526313.1:p.Val679=
XR_244074.2:n.2427_2431delinsTCTTC
XM_011528010.2:c.2339_2343delinsTCTTC XP_011526312.1:p.Val780=
XR_001753685.2:n.2751_2755delinsTCTTC
XR_001753686.2:n.2394_2398delinsTCTTC
NM_000527.5:c.2417_2421delinsTCTTC MANE Select NP_000518.1:p.Val806=
NM_001195798.2:c.2417_2421delinsTCTTC NP_001182727.1:p.Val806=
NM_001195799.2:c.2294_2298delinsTCTTC NP_001182728.1:p.Val765=
NM_001195800.2:c.1913_1917delinsTCTTC NP_001182729.1:p.Val638=
NM_001195803.2:c.1883_1887delinsTCTTC NP_001182732.1:p.Val628=