Canonical Allele Identifier: CA2695228175

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113536del , CM000681.2:g.11113536del	GRCh38
NC_000019.9:g.11224212del , CM000681.1:g.11224212del	GRCh37
NC_000019.8:g.11085212del	NCBI36
NG_009060.1:g.29156del , LRG_274:g.29156del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1618del	ENSP00000252444.6:p.Thr540ProfsTer?
ENST00000559340.2:c.1360del	ENSP00000453696.2:p.Thr454ProfsTer?
ENST00000560467.2:c.1240del	ENSP00000453513.2:p.Thr414ProfsTer?
ENST00000558518.6:c.1360del MANE Select	ENSP00000454071.1:p.Thr454ProfsTer?
ENST00000252444.9:c.1614del
ENST00000455727.6:c.856del	ENSP00000397829.2:p.Thr286ProfsTer?
ENST00000535915.5:c.1237del	ENSP00000440520.1:p.Thr413ProfsTer?
ENST00000545707.5:c.979del	ENSP00000437639.1:p.Thr327ProfsTer?
ENST00000557933.5:c.1360del	ENSP00000453557.1:p.Thr454ProfsTer?
ENST00000558013.5:c.1360del	ENSP00000453346.1:p.Thr454ProfsTer?
ENST00000558518.5:c.1360del	ENSP00000454071.1:p.Thr454ProfsTer?
ENST00000559340.1:c.81del
ENST00000560467.1:c.840del
NM_000527.4:c.1360del , LRG_274t1:c.1360del	NP_000518.1:p.Thr454ProfsTer?
NM_001195798.1:c.1360del	NP_001182727.1:p.Thr454ProfsTer?
NM_001195799.1:c.1237del	NP_001182728.1:p.Thr413ProfsTer?
NM_001195800.1:c.856del	NP_001182729.1:p.Thr286ProfsTer?
NM_001195803.1:c.979del	NP_001182732.1:p.Thr327ProfsTer?
XM_011528010.1:c.1360del	XP_011526312.1:p.Thr454ProfsTer?
XM_011528011.1:c.979del	XP_011526313.1:p.Thr327ProfsTer?
XR_244074.2:n.1510del
XM_011528010.2:c.1360del	XP_011526312.1:p.Thr454ProfsTer?
XR_001753685.2:n.1477del
XR_001753686.2:n.1477del
NM_000527.5:c.1360del MANE Select	NP_000518.1:p.Thr454ProfsTer?
NM_001195798.2:c.1360del	NP_001182727.1:p.Thr454ProfsTer?
NM_001195799.2:c.1237del	NP_001182728.1:p.Thr413ProfsTer?
NM_001195800.2:c.856del	NP_001182729.1:p.Thr286ProfsTer?
NM_001195803.2:c.979del	NP_001182732.1:p.Thr327ProfsTer?