Canonical Allele Identifier: CA2322773279
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116156_11116157delinsTG , CM000681.2:g.11116156_11116157delinsTG GRCh38
NC_000019.9:g.11226832_11226833delinsTG , CM000681.1:g.11226832_11226833delinsTG GRCh37
NC_000019.8:g.11087832_11087833delinsTG NCBI36
NG_009060.1:g.31776_31777delinsTG , LRG_274:g.31776_31777delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1907_1908delinsTG ENSP00000252444.6:p.Val636=
ENST00000559340.2:c.1649_1650delinsTG ENSP00000453696.2:p.Val550=
ENST00000560467.2:c.1529_1530delinsTG ENSP00000453513.2:p.Val510=
ENST00000558518.6:c.1649_1650delinsTG MANE Select ENSP00000454071.1:p.Val550=
ENST00000252444.9:c.1903_1904delinsTG
ENST00000455727.6:c.1145_1146delinsTG ENSP00000397829.2:p.Val382=
ENST00000535915.5:c.1526_1527delinsTG ENSP00000440520.1:p.Val509=
ENST00000545707.5:c.1268_1269delinsTG ENSP00000437639.1:p.Val423=
ENST00000557933.5:c.1649_1650delinsTG ENSP00000453557.1:p.Val550=
ENST00000558013.5:c.1649_1650delinsTG ENSP00000453346.1:p.Val550=
ENST00000558518.5:c.1649_1650delinsTG ENSP00000454071.1:p.Val550=
ENST00000559340.1:c.370_371delinsTG
NM_000527.4:c.1649_1650delinsTG , LRG_274t1:c.1649_1650delinsTG NP_000518.1:p.Val550=
NM_001195798.1:c.1649_1650delinsTG NP_001182727.1:p.Val550=
NM_001195799.1:c.1526_1527delinsTG NP_001182728.1:p.Val509=
NM_001195800.1:c.1145_1146delinsTG NP_001182729.1:p.Val382=
NM_001195803.1:c.1268_1269delinsTG NP_001182732.1:p.Val423=
XM_011528010.1:c.1649_1650delinsTG XP_011526312.1:p.Val550=
XM_011528011.1:c.1268_1269delinsTG XP_011526313.1:p.Val423=
XR_244074.2:n.1799_1800delinsTG
XM_011528010.2:c.1649_1650delinsTG XP_011526312.1:p.Val550=
XR_001753685.2:n.1766_1767delinsTG
XR_001753686.2:n.1766_1767delinsTG
NM_000527.5:c.1649_1650delinsTG MANE Select NP_000518.1:p.Val550=
NM_001195798.2:c.1649_1650delinsTG NP_001182727.1:p.Val550=
NM_001195799.2:c.1526_1527delinsTG NP_001182728.1:p.Val509=
NM_001195800.2:c.1145_1146delinsTG NP_001182729.1:p.Val382=
NM_001195803.2:c.1268_1269delinsTG NP_001182732.1:p.Val423=