Canonical Allele Identifier: CA2499225314

Gene: LDLR

Linked Data

• dbSNP Id: rs2147225826

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105588_11105589insGTATGGACTGCA , CM000681.2:g.11105588_11105589insGTATGGACTGCA	GRCh38
NC_000019.9:g.11216264_11216265insGTATGGACTGCA , CM000681.1:g.11216264_11216265insGTATGGACTGCA	GRCh37
NC_000019.8:g.11077264_11077265insGTATGGACTGCA	NCBI36
NG_009060.1:g.21208_21209insGTATGGACTGCA , LRG_274:g.21208_21209insGTATGGACTGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.940_941insGTATGGACTGCA	ENSP00000252444.6:p.Glu314delinsGlyMetAspCysLys
ENST00000559340.2:c.682_683insGTATGGACTGCA	ENSP00000453696.2:p.Glu228delinsGlyMetAspCysLys
ENST00000560467.2:c.682_683insGTATGGACTGCA	ENSP00000453513.2:p.Glu228delinsGlyMetAspCysLys
ENST00000558518.6:c.682_683insGTATGGACTGCA MANE Select	ENSP00000454071.1:p.Glu228delinsGlyMetAspCysLys
ENST00000252444.9:c.936_937insGTATGGACTGCA
ENST00000455727.6:c.314-1804_314-1803insGTATGGACTGCA	ENSP00000397829.2:n.314-1804_314-1803insGTATGGACTGCA
ENST00000535915.5:c.559_560insGTATGGACTGCA	ENSP00000440520.1:p.Glu187delinsGlyMetAspCysLys
ENST00000545707.5:c.314-977_314-976insGTATGGACTGCA	ENSP00000437639.1:n.314-977_314-976insGTATGGACTGCA
ENST00000557933.5:c.682_683insGTATGGACTGCA	ENSP00000453557.1:p.Glu228delinsGlyMetAspCysLys
ENST00000558013.5:c.682_683insGTATGGACTGCA	ENSP00000453346.1:p.Glu228delinsGlyMetAspCysLys
ENST00000558518.5:c.682_683insGTATGGACTGCA	ENSP00000454071.1:p.Glu228delinsGlyMetAspCysLys
ENST00000560467.1:c.282_283insGTATGGACTGCA
NM_000527.4:c.682_683insGTATGGACTGCA , LRG_274t1:c.682_683insGTATGGACTGCA	NP_000518.1:p.Glu228delinsGlyMetAspCysLys
NM_001195798.1:c.682_683insGTATGGACTGCA	NP_001182727.1:p.Glu228delinsGlyMetAspCysLys
NM_001195799.1:c.559_560insGTATGGACTGCA	NP_001182728.1:p.Glu187delinsGlyMetAspCysLys
NM_001195800.1:c.314-1804_314-1803insGTATGGACTGCA	NP_001182729.1:n.314-1804_314-1803insGTATGGACTGCA
NM_001195803.1:c.314-977_314-976insGTATGGACTGCA	NP_001182732.1:n.314-977_314-976insGTATGGACTGCA
XM_011528010.1:c.682_683insGTATGGACTGCA	XP_011526312.1:p.Glu228delinsGlyMetAspCysLys
XM_011528011.1:c.314-977_314-976insGTATGGACTGCA	XP_011526313.1:n.314-977_314-976insGTATGGACTGCA
XR_244074.2:n.832_833insGTATGGACTGCA
XM_011528010.2:c.682_683insGTATGGACTGCA	XP_011526312.1:p.Glu228delinsGlyMetAspCysLys
XR_001753685.2:n.799_800insGTATGGACTGCA
XR_001753686.2:n.799_800insGTATGGACTGCA
NM_000527.5:c.682_683insGTATGGACTGCA MANE Select	NP_000518.1:p.Glu228delinsGlyMetAspCysLys
NM_001195798.2:c.682_683insGTATGGACTGCA	NP_001182727.1:p.Glu228delinsGlyMetAspCysLys
NM_001195799.2:c.559_560insGTATGGACTGCA	NP_001182728.1:p.Glu187delinsGlyMetAspCysLys
NM_001195800.2:c.314-1804_314-1803insGTATGGACTGCA	NP_001182729.1:n.314-1804_314-1803insGTATGGACTGCA
NM_001195803.2:c.314-977_314-976insGTATGGACTGCA	NP_001182732.1:n.314-977_314-976insGTATGGACTGCA