Canonical Allele Identifier: CA10585612

Gene: LDLR

Linked Data

• ClinVar Variation Id: 252031
• ClinVar RCV Id: RCV000237137
• dbSNP Id: rs879255022
• MyVariant Identifiers: chr19:g.11227618del (hg19) ; chr19:g.11116942del (hg38)
• PubMed: PMID:16250003

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116942del , CM000681.2:g.11116942del	GRCh38
NC_000019.9:g.11227618del , CM000681.1:g.11227618del	GRCh37
NC_000019.8:g.11088618del	NCBI36
NG_009060.1:g.32562del , LRG_274:g.32562del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2047del	ENSP00000252444.6:p.Thr683ProfsTer?
ENST00000559340.2:c.1705+730del	ENSP00000453696.2:n.1705+730del
ENST00000560467.2:c.1669del	ENSP00000453513.2:p.Thr557ProfsTer?
ENST00000558518.6:c.1789del MANE Select	ENSP00000454071.1:p.Thr597ProfsTer?
ENST00000252444.9:c.2043del
ENST00000455727.6:c.1285del	ENSP00000397829.2:p.Thr429ProfsTer?
ENST00000535915.5:c.1666del	ENSP00000440520.1:p.Thr556ProfsTer?
ENST00000545707.5:c.1408del	ENSP00000437639.1:p.Thr470ProfsTer?
ENST00000557933.5:c.1789del	ENSP00000453557.1:p.Thr597ProfsTer?
ENST00000558013.5:c.1789del	ENSP00000453346.1:p.Thr597ProfsTer?
ENST00000558518.5:c.1789del	ENSP00000454071.1:p.Thr597ProfsTer?
ENST00000559340.1:c.426+730del
NM_000527.4:c.1789del , LRG_274t1:c.1789del	NP_000518.1:p.Thr597ProfsTer?
NM_001195798.1:c.1789del	NP_001182727.1:p.Thr597ProfsTer?
NM_001195799.1:c.1666del	NP_001182728.1:p.Thr556ProfsTer?
NM_001195800.1:c.1285del	NP_001182729.1:p.Thr429ProfsTer?
NM_001195803.1:c.1408del	NP_001182732.1:p.Thr470ProfsTer?
XM_011528010.1:c.1789del	XP_011526312.1:p.Thr597ProfsTer?
XM_011528011.1:c.1408del	XP_011526313.1:p.Thr470ProfsTer?
XR_244074.2:n.1855+730del
XM_011528010.2:c.1789del	XP_011526312.1:p.Thr597ProfsTer?
XR_001753685.2:n.1906del
XR_001753686.2:n.1822+730del
NM_000527.5:c.1789del MANE Select	NP_000518.1:p.Thr597ProfsTer?
NM_001195798.2:c.1789del	NP_001182727.1:p.Thr597ProfsTer?
NM_001195799.2:c.1666del	NP_001182728.1:p.Thr556ProfsTer?
NM_001195800.2:c.1285del	NP_001182729.1:p.Thr429ProfsTer?
NM_001195803.2:c.1408del	NP_001182732.1:p.Thr470ProfsTer?