Canonical Allele Identifier: CA2695195460

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105360dup , CM000681.2:g.11105360dup	GRCh38
NC_000019.9:g.11216036dup , CM000681.1:g.11216036dup	GRCh37
NC_000019.8:g.11077036dup	NCBI36
NG_009060.1:g.20980dup , LRG_274:g.20980dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.712dup	ENSP00000252444.6:p.Ser238LysfsTer28
ENST00000559340.2:c.454dup	ENSP00000453696.2:p.Ser152LysfsTer28
ENST00000560467.2:c.454dup	ENSP00000453513.2:p.Ser152LysfsTer28
ENST00000558518.6:c.454dup MANE Select	ENSP00000454071.1:p.Ser152LysfsTer28
ENST00000252444.9:c.708dup
ENST00000455727.6:c.314-2032dup	ENSP00000397829.2:n.314-2032dup
ENST00000535915.5:c.331dup	ENSP00000440520.1:p.Ser111LysfsTer28
ENST00000545707.5:c.314-1205dup	ENSP00000437639.1:n.314-1205dup
ENST00000557933.5:c.454dup	ENSP00000453557.1:p.Ser152LysfsTer28
ENST00000558013.5:c.454dup	ENSP00000453346.1:p.Ser152LysfsTer28
ENST00000558518.5:c.454dup	ENSP00000454071.1:p.Ser152LysfsTer28
ENST00000560467.1:c.54dup
NM_000527.4:c.454dup , LRG_274t1:c.454dup	NP_000518.1:p.Ser152LysfsTer28
NM_001195798.1:c.454dup	NP_001182727.1:p.Ser152LysfsTer28
NM_001195799.1:c.331dup	NP_001182728.1:p.Ser111LysfsTer28
NM_001195800.1:c.314-2032dup	NP_001182729.1:n.314-2032dup
NM_001195803.1:c.314-1205dup	NP_001182732.1:n.314-1205dup
XM_011528010.1:c.454dup	XP_011526312.1:p.Ser152LysfsTer28
XM_011528011.1:c.314-1205dup	XP_011526313.1:n.314-1205dup
XR_244074.2:n.604dup
XM_011528010.2:c.454dup	XP_011526312.1:p.Ser152LysfsTer28
XR_001753685.2:n.571dup
XR_001753686.2:n.571dup
NM_000527.5:c.454dup MANE Select	NP_000518.1:p.Ser152LysfsTer28
NM_001195798.2:c.454dup	NP_001182727.1:p.Ser152LysfsTer28
NM_001195799.2:c.331dup	NP_001182728.1:p.Ser111LysfsTer28
NM_001195800.2:c.314-2032dup	NP_001182729.1:n.314-2032dup
NM_001195803.2:c.314-1205dup	NP_001182732.1:n.314-1205dup