Canonical Allele Identifier: CA10584988

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251297
• ClinVar RCV Id: RCV000237989
• dbSNP Id: rs879254575
• MyVariant Identifiers: chr19:g.11216143_11216144del (hg19) ; chr19:g.11105467_11105468del (hg38)
• PubMed: PMID:7635461

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105467_11105468del , CM000681.2:g.11105467_11105468del	GRCh38
NC_000019.9:g.11216143_11216144del , CM000681.1:g.11216143_11216144del	GRCh37
NC_000019.8:g.11077143_11077144del	NCBI36
NG_009060.1:g.21087_21088del , LRG_274:g.21087_21088del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.819_820del	ENSP00000252444.6:p.Tyr274ArgfsTer7
ENST00000559340.2:c.561_562del	ENSP00000453696.2:p.Tyr188ArgfsTer7
ENST00000560467.2:c.561_562del	ENSP00000453513.2:p.Tyr188ArgfsTer7
ENST00000558518.6:c.561_562del MANE Select	ENSP00000454071.1:p.Tyr188ArgfsTer7
ENST00000252444.9:c.815_816del
ENST00000455727.6:c.314-1925_314-1924del	ENSP00000397829.2:n.314-1925_314-1924del
ENST00000535915.5:c.438_439del	ENSP00000440520.1:p.Tyr147ArgfsTer7
ENST00000545707.5:c.314-1098_314-1097del	ENSP00000437639.1:n.314-1098_314-1097del
ENST00000557933.5:c.561_562del	ENSP00000453557.1:p.Tyr188ArgfsTer7
ENST00000558013.5:c.561_562del	ENSP00000453346.1:p.Tyr188ArgfsTer7
ENST00000558518.5:c.561_562del	ENSP00000454071.1:p.Tyr188ArgfsTer7
ENST00000560467.1:c.161_162del
NM_000527.4:c.561_562del , LRG_274t1:c.561_562del	NP_000518.1:p.Tyr188ArgfsTer7
NM_001195798.1:c.561_562del	NP_001182727.1:p.Tyr188ArgfsTer7
NM_001195799.1:c.438_439del	NP_001182728.1:p.Tyr147ArgfsTer7
NM_001195800.1:c.314-1925_314-1924del	NP_001182729.1:n.314-1925_314-1924del
NM_001195803.1:c.314-1098_314-1097del	NP_001182732.1:n.314-1098_314-1097del
XM_011528010.1:c.561_562del	XP_011526312.1:p.Tyr188ArgfsTer7
XM_011528011.1:c.314-1098_314-1097del	XP_011526313.1:n.314-1098_314-1097del
XR_244074.2:n.711_712del
XM_011528010.2:c.561_562del	XP_011526312.1:p.Tyr188ArgfsTer7
XR_001753685.2:n.678_679del
XR_001753686.2:n.678_679del
NM_000527.5:c.561_562del MANE Select	NP_000518.1:p.Tyr188ArgfsTer7
NM_001195798.2:c.561_562del	NP_001182727.1:p.Tyr188ArgfsTer7
NM_001195799.2:c.438_439del	NP_001182728.1:p.Tyr147ArgfsTer7
NM_001195800.2:c.314-1925_314-1924del	NP_001182729.1:n.314-1925_314-1924del
NM_001195803.2:c.314-1098_314-1097del	NP_001182732.1:n.314-1098_314-1097del