Canonical Allele Identifier: CA10585173

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251500
• ClinVar RCV Id: RCV000238465
• dbSNP Id: rs879254705
• MyVariant Identifiers: chr19:g.11218134del (hg19) ; chr19:g.11107458del (hg38)
• PubMed: PMID:11668640

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11107458del , CM000681.2:g.11107458del	GRCh38
NC_000019.9:g.11218134del , CM000681.1:g.11218134del	GRCh37
NC_000019.8:g.11079134del	NCBI36
NG_009060.1:g.23078del , LRG_274:g.23078del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1142del	ENSP00000252444.6:p.Val381AlafsTer?
ENST00000559340.2:c.884del	ENSP00000453696.2:p.Val295AlafsTer?
ENST00000560467.2:c.884del	ENSP00000453513.2:p.Val295AlafsTer?
ENST00000558518.6:c.884del MANE Select	ENSP00000454071.1:p.Val295AlafsTer?
ENST00000252444.9:c.1138del
ENST00000455727.6:c.380del	ENSP00000397829.2:p.Val127AlafsTer?
ENST00000535915.5:c.761del	ENSP00000440520.1:p.Val254AlafsTer?
ENST00000545707.5:c.503del	ENSP00000437639.1:p.Val168AlafsTer?
ENST00000557933.5:c.884del	ENSP00000453557.1:p.Val295AlafsTer?
ENST00000558013.5:c.884del	ENSP00000453346.1:p.Val295AlafsTer?
ENST00000558518.5:c.884del	ENSP00000454071.1:p.Val295AlafsTer?
ENST00000558528.1:n.399del
ENST00000560467.1:c.484del
NM_000527.4:c.884del , LRG_274t1:c.884del	NP_000518.1:p.Val295AlafsTer?
NM_001195798.1:c.884del	NP_001182727.1:p.Val295AlafsTer?
NM_001195799.1:c.761del	NP_001182728.1:p.Val254AlafsTer?
NM_001195800.1:c.380del	NP_001182729.1:p.Val127AlafsTer?
NM_001195803.1:c.503del	NP_001182732.1:p.Val168AlafsTer?
XM_011528010.1:c.884del	XP_011526312.1:p.Val295AlafsTer?
XM_011528011.1:c.503del	XP_011526313.1:p.Val168AlafsTer?
XR_244074.2:n.1034del
XM_011528010.2:c.884del	XP_011526312.1:p.Val295AlafsTer?
XR_001753685.2:n.1001del
XR_001753686.2:n.1001del
NM_000527.5:c.884del MANE Select	NP_000518.1:p.Val295AlafsTer?
NM_001195798.2:c.884del	NP_001182727.1:p.Val295AlafsTer?
NM_001195799.2:c.761del	NP_001182728.1:p.Val254AlafsTer?
NM_001195800.2:c.380del	NP_001182729.1:p.Val127AlafsTer?
NM_001195803.2:c.503del	NP_001182732.1:p.Val168AlafsTer?