Canonical Allele Identifier: CA2695238671

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105570_11105588dup , CM000681.2:g.11105570_11105588dup	GRCh38
NC_000019.9:g.11216246_11216264dup , CM000681.1:g.11216246_11216264dup	GRCh37
NC_000019.8:g.11077246_11077264dup	NCBI36
NG_009060.1:g.21190_21208dup , LRG_274:g.21190_21208dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.922_940dup	ENSP00000252444.6:p.Glu314ValfsTer6
ENST00000559340.2:c.664_682dup	ENSP00000453696.2:p.Glu228ValfsTer6
ENST00000560467.2:c.664_682dup	ENSP00000453513.2:p.Glu228ValfsTer6
ENST00000558518.6:c.664_682dup MANE Select	ENSP00000454071.1:p.Glu228ValfsTer6
ENST00000252444.9:c.918_936dup
ENST00000455727.6:c.314-1822_314-1804dup	ENSP00000397829.2:n.314-1822_314-1804dup
ENST00000535915.5:c.541_559dup	ENSP00000440520.1:p.Glu187ValfsTer6
ENST00000545707.5:c.314-995_314-977dup	ENSP00000437639.1:n.314-995_314-977dup
ENST00000557933.5:c.664_682dup	ENSP00000453557.1:p.Glu228ValfsTer6
ENST00000558013.5:c.664_682dup	ENSP00000453346.1:p.Glu228ValfsTer6
ENST00000558518.5:c.664_682dup	ENSP00000454071.1:p.Glu228ValfsTer6
ENST00000560467.1:c.264_282dup
NM_000527.4:c.664_682dup , LRG_274t1:c.664_682dup	NP_000518.1:p.Glu228ValfsTer6
NM_001195798.1:c.664_682dup	NP_001182727.1:p.Glu228ValfsTer6
NM_001195799.1:c.541_559dup	NP_001182728.1:p.Glu187ValfsTer6
NM_001195800.1:c.314-1822_314-1804dup	NP_001182729.1:n.314-1822_314-1804dup
NM_001195803.1:c.314-995_314-977dup	NP_001182732.1:n.314-995_314-977dup
XM_011528010.1:c.664_682dup	XP_011526312.1:p.Glu228ValfsTer6
XM_011528011.1:c.314-995_314-977dup	XP_011526313.1:n.314-995_314-977dup
XR_244074.2:n.814_832dup
XM_011528010.2:c.664_682dup	XP_011526312.1:p.Glu228ValfsTer6
XR_001753685.2:n.781_799dup
XR_001753686.2:n.781_799dup
NM_000527.5:c.664_682dup MANE Select	NP_000518.1:p.Glu228ValfsTer6
NM_001195798.2:c.664_682dup	NP_001182727.1:p.Glu228ValfsTer6
NM_001195799.2:c.541_559dup	NP_001182728.1:p.Glu187ValfsTer6
NM_001195800.2:c.314-1822_314-1804dup	NP_001182729.1:n.314-1822_314-1804dup
NM_001195803.2:c.314-995_314-977dup	NP_001182732.1:n.314-995_314-977dup