Canonical Allele Identifier: CA10585205

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251535
• ClinVar RCV Id: RCV000238559
• dbSNP Id: rs879254726
• MyVariant Identifiers: chr19:g.11218185_11218186del (hg19) ; chr19:g.11107509_11107510del (hg38)
• PubMed: PMID:9654205

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11107509_11107510del , CM000681.2:g.11107509_11107510del	GRCh38
NC_000019.9:g.11218185_11218186del , CM000681.1:g.11218185_11218186del	GRCh37
NC_000019.8:g.11079185_11079186del	NCBI36
NG_009060.1:g.23129_23130del , LRG_274:g.23129_23130del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1193_1194del	ENSP00000252444.6:p.Glu398ValfsTer19
ENST00000559340.2:c.935_936del	ENSP00000453696.2:p.Glu312ValfsTer19
ENST00000560467.2:c.935_936del	ENSP00000453513.2:p.Glu312ValfsTer5
ENST00000558518.6:c.935_936del MANE Select	ENSP00000454071.1:p.Glu312ValfsTer19
ENST00000252444.9:c.1189_1190del
ENST00000455727.6:c.431_432del	ENSP00000397829.2:p.Glu144ValfsTer19
ENST00000535915.5:c.812_813del	ENSP00000440520.1:p.Glu271ValfsTer19
ENST00000545707.5:c.554_555del	ENSP00000437639.1:p.Glu185ValfsTer19
ENST00000557933.5:c.935_936del	ENSP00000453557.1:p.Glu312ValfsTer19
ENST00000558013.5:c.935_936del	ENSP00000453346.1:p.Glu312ValfsTer19
ENST00000558518.5:c.935_936del	ENSP00000454071.1:p.Glu312ValfsTer19
ENST00000558528.1:n.450_451del
ENST00000560467.1:c.535_536del
NM_000527.4:c.935_936del , LRG_274t1:c.935_936del	NP_000518.1:p.Glu312ValfsTer19
NM_001195798.1:c.935_936del	NP_001182727.1:p.Glu312ValfsTer19
NM_001195799.1:c.812_813del	NP_001182728.1:p.Glu271ValfsTer19
NM_001195800.1:c.431_432del	NP_001182729.1:p.Glu144ValfsTer19
NM_001195803.1:c.554_555del	NP_001182732.1:p.Glu185ValfsTer19
XM_011528010.1:c.935_936del	XP_011526312.1:p.Glu312ValfsTer19
XM_011528011.1:c.554_555del	XP_011526313.1:p.Glu185ValfsTer19
XR_244074.2:n.1085_1086del
XM_011528010.2:c.935_936del	XP_011526312.1:p.Glu312ValfsTer19
XR_001753685.2:n.1052_1053del
XR_001753686.2:n.1052_1053del
NM_000527.5:c.935_936del MANE Select	NP_000518.1:p.Glu312ValfsTer19
NM_001195798.2:c.935_936del	NP_001182727.1:p.Glu312ValfsTer19
NM_001195799.2:c.812_813del	NP_001182728.1:p.Glu271ValfsTer19
NM_001195800.2:c.431_432del	NP_001182729.1:p.Glu144ValfsTer19
NM_001195803.2:c.554_555del	NP_001182732.1:p.Glu185ValfsTer19