Canonical Allele Identifier: CA2322773693
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116918_11116920delinsGAT , CM000681.2:g.11116918_11116920delinsGAT GRCh38
NC_000019.9:g.11227594_11227596delinsGAT , CM000681.1:g.11227594_11227596delinsGAT GRCh37
NC_000019.8:g.11088594_11088596delinsGAT NCBI36
NG_009060.1:g.32538_32540delinsGAT , LRG_274:g.32538_32540delinsGAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2023_2025delinsGAT ENSP00000252444.6:p.Asp675=
ENST00000559340.2:c.1705+706_1705+708delinsGAT ENSP00000453696.2:n.1705+706_1705+708delinsGAT
ENST00000560467.2:c.1645_1647delinsGAT ENSP00000453513.2:p.Asp549=
ENST00000558518.6:c.1765_1767delinsGAT MANE Select ENSP00000454071.1:p.Asp589=
ENST00000252444.9:c.2019_2021delinsGAT
ENST00000455727.6:c.1261_1263delinsGAT ENSP00000397829.2:p.Asp421=
ENST00000535915.5:c.1642_1644delinsGAT ENSP00000440520.1:p.Asp548=
ENST00000545707.5:c.1384_1386delinsGAT ENSP00000437639.1:p.Asp462=
ENST00000557933.5:c.1765_1767delinsGAT ENSP00000453557.1:p.Asp589=
ENST00000558013.5:c.1765_1767delinsGAT ENSP00000453346.1:p.Asp589=
ENST00000558518.5:c.1765_1767delinsGAT ENSP00000454071.1:p.Asp589=
ENST00000559340.1:c.426+706_426+708delinsGAT
NM_000527.4:c.1765_1767delinsGAT , LRG_274t1:c.1765_1767delinsGAT NP_000518.1:p.Asp589=
NM_001195798.1:c.1765_1767delinsGAT NP_001182727.1:p.Asp589=
NM_001195799.1:c.1642_1644delinsGAT NP_001182728.1:p.Asp548=
NM_001195800.1:c.1261_1263delinsGAT NP_001182729.1:p.Asp421=
NM_001195803.1:c.1384_1386delinsGAT NP_001182732.1:p.Asp462=
XM_011528010.1:c.1765_1767delinsGAT XP_011526312.1:p.Asp589=
XM_011528011.1:c.1384_1386delinsGAT XP_011526313.1:p.Asp462=
XR_244074.2:n.1855+706_1855+708delinsGAT
XM_011528010.2:c.1765_1767delinsGAT XP_011526312.1:p.Asp589=
XR_001753685.2:n.1882_1884delinsGAT
XR_001753686.2:n.1822+706_1822+708delinsGAT
NM_000527.5:c.1765_1767delinsGAT MANE Select NP_000518.1:p.Asp589=
NM_001195798.2:c.1765_1767delinsGAT NP_001182727.1:p.Asp589=
NM_001195799.2:c.1642_1644delinsGAT NP_001182728.1:p.Asp548=
NM_001195800.2:c.1261_1263delinsGAT NP_001182729.1:p.Asp421=
NM_001195803.2:c.1384_1386delinsGAT NP_001182732.1:p.Asp462=