Canonical Allele Identifier: CA2322775364
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120122_11120123delinsGA , CM000681.2:g.11120122_11120123delinsGA GRCh38
NC_000019.9:g.11230798_11230799delinsGA , CM000681.1:g.11230798_11230799delinsGA GRCh37
NC_000019.8:g.11091798_11091799delinsGA NCBI36
NG_009060.1:g.35742_35743delinsGA , LRG_274:g.35742_35743delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2134_2135delinsGA ENSP00000252444.6:p.Glu712=
ENST00000559340.2:c.1736_1737delinsGA ENSP00000453696.2:p.Arg579=
ENST00000560467.2:c.1756_1757delinsGA ENSP00000453513.2:p.Glu586=
ENST00000558518.6:c.1876_1877delinsGA MANE Select ENSP00000454071.1:p.Glu626=
ENST00000252444.9:c.2130_2131delinsGA
ENST00000455727.6:c.1372_1373delinsGA ENSP00000397829.2:p.Glu458=
ENST00000535915.5:c.1753_1754delinsGA ENSP00000440520.1:p.Glu585=
ENST00000545707.5:c.1495_1496delinsGA ENSP00000437639.1:p.Glu499=
ENST00000557933.5:c.1876_1877delinsGA ENSP00000453557.1:p.Glu626=
ENST00000558013.5:c.1876_1877delinsGA ENSP00000453346.1:p.Glu626=
ENST00000558518.5:c.1876_1877delinsGA ENSP00000454071.1:p.Glu626=
ENST00000559340.1:c.457_458delinsGA
NM_000527.4:c.1876_1877delinsGA , LRG_274t1:c.1876_1877delinsGA NP_000518.1:p.Glu626=
NM_001195798.1:c.1876_1877delinsGA NP_001182727.1:p.Glu626=
NM_001195799.1:c.1753_1754delinsGA NP_001182728.1:p.Glu585=
NM_001195800.1:c.1372_1373delinsGA NP_001182729.1:p.Glu458=
NM_001195803.1:c.1495_1496delinsGA NP_001182732.1:p.Glu499=
XM_011528010.1:c.1876_1877delinsGA XP_011526312.1:p.Glu626=
XM_011528011.1:c.1495_1496delinsGA XP_011526313.1:p.Glu499=
XR_244074.2:n.1886_1887delinsGA
XM_011528010.2:c.1876_1877delinsGA XP_011526312.1:p.Glu626=
XR_001753685.2:n.1993_1994delinsGA
XR_001753686.2:n.1853_1854delinsGA
NM_000527.5:c.1876_1877delinsGA MANE Select NP_000518.1:p.Glu626=
NM_001195798.2:c.1876_1877delinsGA NP_001182727.1:p.Glu626=
NM_001195799.2:c.1753_1754delinsGA NP_001182728.1:p.Glu585=
NM_001195800.2:c.1372_1373delinsGA NP_001182729.1:p.Glu458=
NM_001195803.2:c.1495_1496delinsGA NP_001182732.1:p.Glu499=