Canonical Allele Identifier: CA10585130

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251451
• ClinVar RCV Id: RCV000237542
• dbSNP Id: rs879254674
• MyVariant Identifiers: chr19:g.11217327del (hg19) ; chr19:g.11106651del (hg38)
• PubMed: PMID:20809525

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11106651del , CM000681.2:g.11106651del	GRCh38
NC_000019.9:g.11217327del , CM000681.1:g.11217327del	GRCh37
NC_000019.8:g.11078327del	NCBI36
NG_009060.1:g.22271del , LRG_274:g.22271del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1039del	ENSP00000252444.6:p.Cys347AlafsTer4
ENST00000559340.2:c.781del	ENSP00000453696.2:p.Cys261AlafsTer4
ENST00000560467.2:c.781del	ENSP00000453513.2:p.Cys261AlafsTer4
ENST00000558518.6:c.781del MANE Select	ENSP00000454071.1:p.Cys261AlafsTer4
ENST00000252444.9:c.1035del
ENST00000455727.6:c.314-741del	ENSP00000397829.2:n.314-741del
ENST00000535915.5:c.658del	ENSP00000440520.1:p.Cys220AlafsTer4
ENST00000545707.5:c.400del	ENSP00000437639.1:p.Cys134AlafsTer4
ENST00000557933.5:c.781del	ENSP00000453557.1:p.Cys261AlafsTer4
ENST00000558013.5:c.781del	ENSP00000453346.1:p.Cys261AlafsTer4
ENST00000558518.5:c.781del	ENSP00000454071.1:p.Cys261AlafsTer4
ENST00000558528.1:n.296del
ENST00000560467.1:c.381del
NM_000527.4:c.781del , LRG_274t1:c.781del	NP_000518.1:p.Cys261AlafsTer4
NM_001195798.1:c.781del	NP_001182727.1:p.Cys261AlafsTer4
NM_001195799.1:c.658del	NP_001182728.1:p.Cys220AlafsTer4
NM_001195800.1:c.314-741del	NP_001182729.1:n.314-741del
NM_001195803.1:c.400del	NP_001182732.1:p.Cys134AlafsTer4
XM_011528010.1:c.781del	XP_011526312.1:p.Cys261AlafsTer4
XM_011528011.1:c.400del	XP_011526313.1:p.Cys134AlafsTer4
XR_244074.2:n.931del
XM_011528010.2:c.781del	XP_011526312.1:p.Cys261AlafsTer4
XR_001753685.2:n.898del
XR_001753686.2:n.898del
NM_000527.5:c.781del MANE Select	NP_000518.1:p.Cys261AlafsTer4
NM_001195798.2:c.781del	NP_001182727.1:p.Cys261AlafsTer4
NM_001195799.2:c.658del	NP_001182728.1:p.Cys220AlafsTer4
NM_001195800.2:c.314-741del	NP_001182729.1:n.314-741del
NM_001195803.2:c.400del	NP_001182732.1:p.Cys134AlafsTer4