Canonical Allele Identifier: CA10585203

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251533
• ClinVar RCV Id: RCV000237329 ; RCV002229689 ; RCV004020955
• dbSNP Id: rs879254723
• gnomAD v4: 19-11107504-CA-C
• MyVariant Identifiers: chr19:g.11218183del (hg19) ; chr19:g.11107507del (hg38)
• PubMed: PMID:10559517 ; PMID:16389549

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11107507del , CM000681.2:g.11107507del	GRCh38
NC_000019.9:g.11218183del , CM000681.1:g.11218183del	GRCh37
NC_000019.8:g.11079183del	NCBI36
NG_009060.1:g.23127del , LRG_274:g.23127del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1191del	ENSP00000252444.6:p.Glu398SerfsTer?
ENST00000559340.2:c.933del	ENSP00000453696.2:p.Glu312SerfsTer?
ENST00000560467.2:c.933del	ENSP00000453513.2:p.Glu312SerfsTer18
ENST00000558518.6:c.933del MANE Select	ENSP00000454071.1:p.Glu312SerfsTer?
ENST00000252444.9:c.1187del
ENST00000455727.6:c.429del	ENSP00000397829.2:p.Glu144SerfsTer?
ENST00000535915.5:c.810del	ENSP00000440520.1:p.Glu271SerfsTer?
ENST00000545707.5:c.552del	ENSP00000437639.1:p.Glu185SerfsTer?
ENST00000557933.5:c.933del	ENSP00000453557.1:p.Glu312SerfsTer?
ENST00000558013.5:c.933del	ENSP00000453346.1:p.Glu312SerfsTer?
ENST00000558518.5:c.933del	ENSP00000454071.1:p.Glu312SerfsTer?
ENST00000558528.1:n.448del
ENST00000560467.1:c.533del
NM_000527.4:c.933del , LRG_274t1:c.933del	NP_000518.1:p.Glu312SerfsTer?
NM_001195798.1:c.933del	NP_001182727.1:p.Glu312SerfsTer?
NM_001195799.1:c.810del	NP_001182728.1:p.Glu271SerfsTer?
NM_001195800.1:c.429del	NP_001182729.1:p.Glu144SerfsTer?
NM_001195803.1:c.552del	NP_001182732.1:p.Glu185SerfsTer?
XM_011528010.1:c.933del	XP_011526312.1:p.Glu312SerfsTer?
XM_011528011.1:c.552del	XP_011526313.1:p.Glu185SerfsTer?
XR_244074.2:n.1083del
XM_011528010.2:c.933del	XP_011526312.1:p.Glu312SerfsTer?
XR_001753685.2:n.1050del
XR_001753686.2:n.1050del
NM_000527.5:c.933del MANE Select	NP_000518.1:p.Glu312SerfsTer?
NM_001195798.2:c.933del	NP_001182727.1:p.Glu312SerfsTer?
NM_001195799.2:c.810del	NP_001182728.1:p.Glu271SerfsTer?
NM_001195800.2:c.429del	NP_001182729.1:p.Glu144SerfsTer?
NM_001195803.2:c.552del	NP_001182732.1:p.Glu185SerfsTer?