Canonical Allele Identifier: CA10585452

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251842
• ClinVar RCV Id: RCV000238248
• dbSNP Id: rs879254902
• MyVariant Identifiers: chr19:g.11224291_11224301del (hg19) ; chr19:g.11113615_11113625del (hg38)
• PubMed: PMID:8678915

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113615_11113625del , CM000681.2:g.11113615_11113625del	GRCh38
NC_000019.9:g.11224291_11224301del , CM000681.1:g.11224291_11224301del	GRCh37
NC_000019.8:g.11085291_11085301del	NCBI36
NG_009060.1:g.29235_29245del , LRG_274:g.29235_29245del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1697_1707del	ENSP00000252444.6:p.Ala566AspfsTer?
ENST00000559340.2:c.1439_1449del	ENSP00000453696.2:p.Ala480AspfsTer?
ENST00000560467.2:c.1319_1329del	ENSP00000453513.2:p.Ala440AspfsTer?
ENST00000558518.6:c.1439_1449del MANE Select	ENSP00000454071.1:p.Ala480AspfsTer?
ENST00000252444.9:c.1693_1703del
ENST00000455727.6:c.935_945del	ENSP00000397829.2:p.Ala312AspfsTer?
ENST00000535915.5:c.1316_1326del	ENSP00000440520.1:p.Ala439AspfsTer?
ENST00000545707.5:c.1058_1068del	ENSP00000437639.1:p.Ala353AspfsTer?
ENST00000557933.5:c.1439_1449del	ENSP00000453557.1:p.Ala480AspfsTer?
ENST00000558013.5:c.1439_1449del	ENSP00000453346.1:p.Ala480AspfsTer?
ENST00000558518.5:c.1439_1449del	ENSP00000454071.1:p.Ala480AspfsTer?
ENST00000559340.1:c.160_170del
NM_000527.4:c.1439_1449del , LRG_274t1:c.1439_1449del	NP_000518.1:p.Ala480AspfsTer?
NM_001195798.1:c.1439_1449del	NP_001182727.1:p.Ala480AspfsTer?
NM_001195799.1:c.1316_1326del	NP_001182728.1:p.Ala439AspfsTer?
NM_001195800.1:c.935_945del	NP_001182729.1:p.Ala312AspfsTer?
NM_001195803.1:c.1058_1068del	NP_001182732.1:p.Ala353AspfsTer?
XM_011528010.1:c.1439_1449del	XP_011526312.1:p.Ala480AspfsTer?
XM_011528011.1:c.1058_1068del	XP_011526313.1:p.Ala353AspfsTer?
XR_244074.2:n.1589_1599del
XM_011528010.2:c.1439_1449del	XP_011526312.1:p.Ala480AspfsTer?
XR_001753685.2:n.1556_1566del
XR_001753686.2:n.1556_1566del
NM_000527.5:c.1439_1449del MANE Select	NP_000518.1:p.Ala480AspfsTer?
NM_001195798.2:c.1439_1449del	NP_001182727.1:p.Ala480AspfsTer?
NM_001195799.2:c.1316_1326del	NP_001182728.1:p.Ala439AspfsTer?
NM_001195800.2:c.935_945del	NP_001182729.1:p.Ala312AspfsTer?
NM_001195803.2:c.1058_1068del	NP_001182732.1:p.Ala353AspfsTer?