Canonical Allele Identifier: CA10585170

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251497
• ClinVar RCV Id: RCV000238497
• dbSNP Id: rs879254702
• MyVariant Identifiers: chr19:g.11218127del (hg19) ; chr19:g.11107451del (hg38)
• PubMed: PMID:7616128 ; PMID:20506408

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11107451del , CM000681.2:g.11107451del	GRCh38
NC_000019.9:g.11218127del , CM000681.1:g.11218127del	GRCh37
NC_000019.8:g.11079127del	NCBI36
NG_009060.1:g.23071del , LRG_274:g.23071del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1135del	ENSP00000252444.6:p.Asp379ThrfsTer?
ENST00000559340.2:c.877del	ENSP00000453696.2:p.Asp293ThrfsTer?
ENST00000560467.2:c.877del	ENSP00000453513.2:p.Asp293ThrfsTer?
ENST00000558518.6:c.877del MANE Select	ENSP00000454071.1:p.Asp293ThrfsTer?
ENST00000252444.9:c.1131del
ENST00000455727.6:c.373del	ENSP00000397829.2:p.Asp125ThrfsTer?
ENST00000535915.5:c.754del	ENSP00000440520.1:p.Asp252ThrfsTer?
ENST00000545707.5:c.496del	ENSP00000437639.1:p.Asp166ThrfsTer?
ENST00000557933.5:c.877del	ENSP00000453557.1:p.Asp293ThrfsTer?
ENST00000558013.5:c.877del	ENSP00000453346.1:p.Asp293ThrfsTer?
ENST00000558518.5:c.877del	ENSP00000454071.1:p.Asp293ThrfsTer?
ENST00000558528.1:n.392del
ENST00000560467.1:c.477del
NM_000527.4:c.877del , LRG_274t1:c.877del	NP_000518.1:p.Asp293ThrfsTer?
NM_001195798.1:c.877del	NP_001182727.1:p.Asp293ThrfsTer?
NM_001195799.1:c.754del	NP_001182728.1:p.Asp252ThrfsTer?
NM_001195800.1:c.373del	NP_001182729.1:p.Asp125ThrfsTer?
NM_001195803.1:c.496del	NP_001182732.1:p.Asp166ThrfsTer?
XM_011528010.1:c.877del	XP_011526312.1:p.Asp293ThrfsTer?
XM_011528011.1:c.496del	XP_011526313.1:p.Asp166ThrfsTer?
XR_244074.2:n.1027del
XM_011528010.2:c.877del	XP_011526312.1:p.Asp293ThrfsTer?
XR_001753685.2:n.994del
XR_001753686.2:n.994del
NM_000527.5:c.877del MANE Select	NP_000518.1:p.Asp293ThrfsTer?
NM_001195798.2:c.877del	NP_001182727.1:p.Asp293ThrfsTer?
NM_001195799.2:c.754del	NP_001182728.1:p.Asp252ThrfsTer?
NM_001195800.2:c.373del	NP_001182729.1:p.Asp125ThrfsTer?
NM_001195803.2:c.496del	NP_001182732.1:p.Asp166ThrfsTer?