Canonical Allele Identifier: CA2322772048
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113745_11113747delinsGGT , CM000681.2:g.11113745_11113747delinsGGT GRCh38
NC_000019.9:g.11224421_11224423delinsGGT , CM000681.1:g.11224421_11224423delinsGGT GRCh37
NC_000019.8:g.11085421_11085423delinsGGT NCBI36
NG_009060.1:g.29365_29367delinsGGT , LRG_274:g.29365_29367delinsGGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1827_1829delinsGGT ENSP00000252444.6:p.Val609=
ENST00000559340.2:c.1569_1571delinsGGT ENSP00000453696.2:p.Val523=
ENST00000560467.2:c.1449_1451delinsGGT ENSP00000453513.2:p.Val483=
ENST00000558518.6:c.1569_1571delinsGGT MANE Select ENSP00000454071.1:p.Val523=
ENST00000252444.9:c.1823_1825delinsGGT
ENST00000455727.6:c.1065_1067delinsGGT ENSP00000397829.2:p.Val355=
ENST00000535915.5:c.1446_1448delinsGGT ENSP00000440520.1:p.Val482=
ENST00000545707.5:c.1188_1190delinsGGT ENSP00000437639.1:p.Val396=
ENST00000557933.5:c.1569_1571delinsGGT ENSP00000453557.1:p.Val523=
ENST00000558013.5:c.1569_1571delinsGGT ENSP00000453346.1:p.Val523=
ENST00000558518.5:c.1569_1571delinsGGT ENSP00000454071.1:p.Val523=
ENST00000559340.1:c.290_292delinsGGT
NM_000527.4:c.1569_1571delinsGGT , LRG_274t1:c.1569_1571delinsGGT NP_000518.1:p.Val523=
NM_001195798.1:c.1569_1571delinsGGT NP_001182727.1:p.Val523=
NM_001195799.1:c.1446_1448delinsGGT NP_001182728.1:p.Val482=
NM_001195800.1:c.1065_1067delinsGGT NP_001182729.1:p.Val355=
NM_001195803.1:c.1188_1190delinsGGT NP_001182732.1:p.Val396=
XM_011528010.1:c.1569_1571delinsGGT XP_011526312.1:p.Val523=
XM_011528011.1:c.1188_1190delinsGGT XP_011526313.1:p.Val396=
XR_244074.2:n.1719_1721delinsGGT
XM_011528010.2:c.1569_1571delinsGGT XP_011526312.1:p.Val523=
XR_001753685.2:n.1686_1688delinsGGT
XR_001753686.2:n.1686_1688delinsGGT
NM_000527.5:c.1569_1571delinsGGT MANE Select NP_000518.1:p.Val523=
NM_001195798.2:c.1569_1571delinsGGT NP_001182727.1:p.Val523=
NM_001195799.2:c.1446_1448delinsGGT NP_001182728.1:p.Val482=
NM_001195800.2:c.1065_1067delinsGGT NP_001182729.1:p.Val355=
NM_001195803.2:c.1188_1190delinsGGT NP_001182732.1:p.Val396=