Canonical Allele Identifier: CA030039

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251506
• ClinVar RCV Id: RCV000237133
• dbSNP Id: rs879254710
• ExAC: 19:11218138 CA / C
• gnomAD v2: 19-11218138-CA-C
• gnomAD v4: 19-11107462-CA-C
• MyVariant Identifiers: chr19:g.11218140del (hg19) ; chr19:g.11218139del (hg19) ; chr19:g.11107464del (hg38) ; chr19:g.11107463del (hg38)
• PubMed: PMID:12673584

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11107464del , CM000681.2:g.11107464del	GRCh38
NC_000019.9:g.11218140del , CM000681.1:g.11218140del	GRCh37
NC_000019.8:g.11079140del	NCBI36
NG_009060.1:g.23084del , LRG_274:g.23084del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1148del	ENSP00000252444.6:p.Asn383ThrfsTer?
ENST00000559340.2:c.890del	ENSP00000453696.2:p.Asn297ThrfsTer?
ENST00000560467.2:c.890del	ENSP00000453513.2:p.Asn297ThrfsTer?
ENST00000558518.6:c.890del MANE Select	ENSP00000454071.1:p.Asn297ThrfsTer?
ENST00000252444.9:c.1144del
ENST00000455727.6:c.386del	ENSP00000397829.2:p.Asn129ThrfsTer?
ENST00000535915.5:c.767del	ENSP00000440520.1:p.Asn256ThrfsTer?
ENST00000545707.5:c.509del	ENSP00000437639.1:p.Asn170ThrfsTer?
ENST00000557933.5:c.890del	ENSP00000453557.1:p.Asn297ThrfsTer?
ENST00000558013.5:c.890del	ENSP00000453346.1:p.Asn297ThrfsTer?
ENST00000558518.5:c.890del	ENSP00000454071.1:p.Asn297ThrfsTer?
ENST00000558528.1:n.405del
ENST00000560467.1:c.490del
NM_000527.4:c.890del , LRG_274t1:c.890del	NP_000518.1:p.Asn297ThrfsTer?
NM_001195798.1:c.890del	NP_001182727.1:p.Asn297ThrfsTer?
NM_001195799.1:c.767del	NP_001182728.1:p.Asn256ThrfsTer?
NM_001195800.1:c.386del	NP_001182729.1:p.Asn129ThrfsTer?
NM_001195803.1:c.509del	NP_001182732.1:p.Asn170ThrfsTer?
XM_011528010.1:c.890del	XP_011526312.1:p.Asn297ThrfsTer?
XM_011528011.1:c.509del	XP_011526313.1:p.Asn170ThrfsTer?
XR_244074.2:n.1040del
XM_011528010.2:c.890del	XP_011526312.1:p.Asn297ThrfsTer?
XR_001753685.2:n.1007del
XR_001753686.2:n.1007del
NM_000527.5:c.890del MANE Select	NP_000518.1:p.Asn297ThrfsTer?
NM_001195798.2:c.890del	NP_001182727.1:p.Asn297ThrfsTer?
NM_001195799.2:c.767del	NP_001182728.1:p.Asn256ThrfsTer?
NM_001195800.2:c.386del	NP_001182729.1:p.Asn129ThrfsTer?
NM_001195803.2:c.509del	NP_001182732.1:p.Asn170ThrfsTer?