Canonical Allele Identifier: CA2322777266
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123328_11123330delinsGAC , CM000681.2:g.11123328_11123330delinsGAC GRCh38
NC_000019.9:g.11234004_11234006delinsGAC , CM000681.1:g.11234004_11234006delinsGAC GRCh37
NC_000019.8:g.11095004_11095006delinsGAC NCBI36
NG_009060.1:g.38948_38950delinsGAC , LRG_274:g.38948_38950delinsGAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2553_2555delinsGAC ENSP00000252444.6:p.Val851=
ENST00000559340.2:c.*364_*366delinsGAC ENSP00000453696.2:n.*364_*366delinsGAC
ENST00000560467.2:c.2175_2177delinsGAC ENSP00000453513.2:p.Val725=
ENST00000558518.6:c.2295_2297delinsGAC MANE Select ENSP00000454071.1:p.Val765=
ENST00000252444.9:c.2549_2551delinsGAC
ENST00000455727.6:c.1791_1793delinsGAC ENSP00000397829.2:p.Val597=
ENST00000535915.5:c.2172_2174delinsGAC ENSP00000440520.1:p.Val724=
ENST00000545707.5:c.1761_1763delinsGAC ENSP00000437639.1:p.Val587=
ENST00000557933.5:c.2295_2297delinsGAC ENSP00000453557.1:p.Val765=
ENST00000558013.5:c.2295_2297delinsGAC ENSP00000453346.1:p.Val765=
ENST00000558518.5:c.2295_2297delinsGAC ENSP00000454071.1:p.Val765=
NM_000527.4:c.2295_2297delinsGAC , LRG_274t1:c.2295_2297delinsGAC NP_000518.1:p.Val765=
NM_001195798.1:c.2295_2297delinsGAC NP_001182727.1:p.Val765=
NM_001195799.1:c.2172_2174delinsGAC NP_001182728.1:p.Val724=
NM_001195800.1:c.1791_1793delinsGAC NP_001182729.1:p.Val597=
NM_001195803.1:c.1761_1763delinsGAC NP_001182732.1:p.Val587=
XM_011528010.1:c.2295_2297delinsGAC XP_011526312.1:p.Val765=
XM_011528011.1:c.1914_1916delinsGAC XP_011526313.1:p.Val638=
XR_244074.2:n.2305_2307delinsGAC
XM_011528010.2:c.2295_2297delinsGAC XP_011526312.1:p.Val765=
XR_001753685.2:n.2629_2631delinsGAC
XR_001753686.2:n.2272_2274delinsGAC
NM_000527.5:c.2295_2297delinsGAC MANE Select NP_000518.1:p.Val765=
NM_001195798.2:c.2295_2297delinsGAC NP_001182727.1:p.Val765=
NM_001195799.2:c.2172_2174delinsGAC NP_001182728.1:p.Val724=
NM_001195800.2:c.1791_1793delinsGAC NP_001182729.1:p.Val597=
NM_001195803.2:c.1761_1763delinsGAC NP_001182732.1:p.Val587=