Canonical Allele Identifier: CA2695228173

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113423dup , CM000681.2:g.11113423dup	GRCh38
NC_000019.9:g.11224099dup , CM000681.1:g.11224099dup	GRCh37
NC_000019.8:g.11085099dup	NCBI36
NG_009060.1:g.29043dup , LRG_274:g.29043dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1590dup	ENSP00000252444.6:p.Asp531Ter
ENST00000559340.2:c.1332dup	ENSP00000453696.2:p.Asp445Ter
ENST00000560467.2:c.1212dup	ENSP00000453513.2:p.Asp405Ter
ENST00000558518.6:c.1332dup MANE Select	ENSP00000454071.1:p.Asp445Ter
ENST00000252444.9:c.1586dup
ENST00000455727.6:c.828dup	ENSP00000397829.2:p.Asp277Ter
ENST00000535915.5:c.1209dup	ENSP00000440520.1:p.Asp404Ter
ENST00000545707.5:c.951dup	ENSP00000437639.1:p.Asp318Ter
ENST00000557933.5:c.1332dup	ENSP00000453557.1:p.Asp445Ter
ENST00000558013.5:c.1332dup	ENSP00000453346.1:p.Asp445Ter
ENST00000558518.5:c.1332dup	ENSP00000454071.1:p.Asp445Ter
ENST00000559340.1:c.53dup
ENST00000560173.1:n.331dup
ENST00000560467.1:c.812dup
NM_000527.4:c.1332dup , LRG_274t1:c.1332dup	NP_000518.1:p.Asp445Ter
NM_001195798.1:c.1332dup	NP_001182727.1:p.Asp445Ter
NM_001195799.1:c.1209dup	NP_001182728.1:p.Asp404Ter
NM_001195800.1:c.828dup	NP_001182729.1:p.Asp277Ter
NM_001195803.1:c.951dup	NP_001182732.1:p.Asp318Ter
XM_011528010.1:c.1332dup	XP_011526312.1:p.Asp445Ter
XM_011528011.1:c.951dup	XP_011526313.1:p.Asp318Ter
XR_244074.2:n.1482dup
XM_011528010.2:c.1332dup	XP_011526312.1:p.Asp445Ter
XR_001753685.2:n.1449dup
XR_001753686.2:n.1449dup
NM_000527.5:c.1332dup MANE Select	NP_000518.1:p.Asp445Ter
NM_001195798.2:c.1332dup	NP_001182727.1:p.Asp445Ter
NM_001195799.2:c.1209dup	NP_001182728.1:p.Asp404Ter
NM_001195800.2:c.828dup	NP_001182729.1:p.Asp277Ter
NM_001195803.2:c.951dup	NP_001182732.1:p.Asp318Ter