Canonical Allele Identifier: CA2322767634
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105588_11105589delinsGA , CM000681.2:g.11105588_11105589delinsGA GRCh38
NC_000019.9:g.11216264_11216265delinsGA , CM000681.1:g.11216264_11216265delinsGA GRCh37
NC_000019.8:g.11077264_11077265delinsGA NCBI36
NG_009060.1:g.21208_21209delinsGA , LRG_274:g.21208_21209delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.940_941delinsGA ENSP00000252444.6:p.Glu314=
ENST00000559340.2:c.682_683delinsGA ENSP00000453696.2:p.Glu228=
ENST00000560467.2:c.682_683delinsGA ENSP00000453513.2:p.Glu228=
ENST00000558518.6:c.682_683delinsGA MANE Select ENSP00000454071.1:p.Glu228=
ENST00000252444.9:c.936_937delinsGA
ENST00000455727.6:c.314-1804_314-1803delinsGA ENSP00000397829.2:n.314-1804_314-1803delinsGA
ENST00000535915.5:c.559_560delinsGA ENSP00000440520.1:p.Glu187=
ENST00000545707.5:c.314-977_314-976delinsGA ENSP00000437639.1:n.314-977_314-976delinsGA
ENST00000557933.5:c.682_683delinsGA ENSP00000453557.1:p.Glu228=
ENST00000558013.5:c.682_683delinsGA ENSP00000453346.1:p.Glu228=
ENST00000558518.5:c.682_683delinsGA ENSP00000454071.1:p.Glu228=
ENST00000560467.1:c.282_283delinsGA
NM_000527.4:c.682_683delinsGA , LRG_274t1:c.682_683delinsGA NP_000518.1:p.Glu228=
NM_001195798.1:c.682_683delinsGA NP_001182727.1:p.Glu228=
NM_001195799.1:c.559_560delinsGA NP_001182728.1:p.Glu187=
NM_001195800.1:c.314-1804_314-1803delinsGA NP_001182729.1:n.314-1804_314-1803delinsGA
NM_001195803.1:c.314-977_314-976delinsGA NP_001182732.1:n.314-977_314-976delinsGA
XM_011528010.1:c.682_683delinsGA XP_011526312.1:p.Glu228=
XM_011528011.1:c.314-977_314-976delinsGA XP_011526313.1:n.314-977_314-976delinsGA
XR_244074.2:n.832_833delinsGA
XM_011528010.2:c.682_683delinsGA XP_011526312.1:p.Glu228=
XR_001753685.2:n.799_800delinsGA
XR_001753686.2:n.799_800delinsGA
NM_000527.5:c.682_683delinsGA MANE Select NP_000518.1:p.Glu228=
NM_001195798.2:c.682_683delinsGA NP_001182727.1:p.Glu228=
NM_001195799.2:c.559_560delinsGA NP_001182728.1:p.Glu187=
NM_001195800.2:c.314-1804_314-1803delinsGA NP_001182729.1:n.314-1804_314-1803delinsGA
NM_001195803.2:c.314-977_314-976delinsGA NP_001182732.1:n.314-977_314-976delinsGA