Canonical Allele Identifier: CA2695228157
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120130_11120131insGA , CM000681.2:g.11120130_11120131insGA GRCh38
NC_000019.9:g.11230806_11230807insGA , CM000681.1:g.11230806_11230807insGA GRCh37
NC_000019.8:g.11091806_11091807insGA NCBI36
NG_009060.1:g.35750_35751insGA , LRG_274:g.35750_35751insGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2142_2143insGA ENSP00000252444.6:p.Phe715AspfsTer?
ENST00000559340.2:c.1744_1745insGA ENSP00000453696.2:p.Phe582Ter
ENST00000560467.2:c.1764_1765insGA ENSP00000453513.2:p.Phe589AspfsTer?
ENST00000558518.6:c.1884_1885insGA MANE Select ENSP00000454071.1:p.Phe629AspfsTer?
ENST00000252444.9:c.2138_2139insGA
ENST00000455727.6:c.1380_1381insGA ENSP00000397829.2:p.Phe461AspfsTer?
ENST00000535915.5:c.1761_1762insGA ENSP00000440520.1:p.Phe588AspfsTer?
ENST00000545707.5:c.1503_1504insGA ENSP00000437639.1:p.Phe502AspfsTer?
ENST00000557933.5:c.1884_1885insGA ENSP00000453557.1:p.Phe629AspfsTer?
ENST00000558013.5:c.1884_1885insGA ENSP00000453346.1:p.Phe629AspfsTer?
ENST00000558518.5:c.1884_1885insGA ENSP00000454071.1:p.Phe629AspfsTer?
ENST00000559340.1:c.465_466insGA
NM_000527.4:c.1884_1885insGA , LRG_274t1:c.1884_1885insGA NP_000518.1:p.Phe629AspfsTer?
NM_001195798.1:c.1884_1885insGA NP_001182727.1:p.Phe629AspfsTer?
NM_001195799.1:c.1761_1762insGA NP_001182728.1:p.Phe588AspfsTer?
NM_001195800.1:c.1380_1381insGA NP_001182729.1:p.Phe461AspfsTer?
NM_001195803.1:c.1503_1504insGA NP_001182732.1:p.Phe502AspfsTer?
XM_011528010.1:c.1884_1885insGA XP_011526312.1:p.Phe629AspfsTer?
XM_011528011.1:c.1503_1504insGA XP_011526313.1:p.Phe502AspfsTer?
XR_244074.2:n.1894_1895insGA
XM_011528010.2:c.1884_1885insGA XP_011526312.1:p.Phe629AspfsTer?
XR_001753685.2:n.2001_2002insGA
XR_001753686.2:n.1861_1862insGA
NM_000527.5:c.1884_1885insGA MANE Select NP_000518.1:p.Phe629AspfsTer?
NM_001195798.2:c.1884_1885insGA NP_001182727.1:p.Phe629AspfsTer?
NM_001195799.2:c.1761_1762insGA NP_001182728.1:p.Phe588AspfsTer?
NM_001195800.2:c.1380_1381insGA NP_001182729.1:p.Phe461AspfsTer?
NM_001195803.2:c.1503_1504insGA NP_001182732.1:p.Phe502AspfsTer?