Canonical Allele Identifier: CA645373222
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 430752
ClinVar RCV Id: RCV000495876
dbSNP Id: rs1131692192

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105224_11105242del , CM000681.2:g.11105224_11105242del GRCh38
NC_000019.9:g.11215900_11215918del , CM000681.1:g.11215900_11215918del GRCh37
NC_000019.8:g.11076900_11076918del NCBI36
NG_009060.1:g.20844_20862del , LRG_274:g.20844_20862del

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.576_594del ENSP00000252444.6:p.Lys193SerfsTer?
ENST00000559340.2:c.318_336del ENSP00000453696.2:p.Lys107SerfsTer?
ENST00000560467.2:c.318_336del ENSP00000453513.2:p.Lys107SerfsTer?
ENST00000558518.6:c.318_336del MANE Select ENSP00000454071.1:p.Lys107SerfsTer?
ENST00000252444.9:c.572_590del
ENST00000455727.6:c.314-2168_314-2150del ENSP00000397829.2:n.314-2168_314-2150del
ENST00000535915.5:c.195_213del ENSP00000440520.1:p.Lys66SerfsTer?
ENST00000545707.5:c.314-1341_314-1323del ENSP00000437639.1:n.314-1341_314-1323del
ENST00000557933.5:c.318_336del ENSP00000453557.1:p.Lys107SerfsTer?
ENST00000558013.5:c.318_336del ENSP00000453346.1:p.Lys107SerfsTer?
ENST00000558518.5:c.318_336del ENSP00000454071.1:p.Lys107SerfsTer?
NM_000527.4:c.318_336del , LRG_274t1:c.318_336del NP_000518.1:p.Lys107SerfsTer?
NM_001195798.1:c.318_336del NP_001182727.1:p.Lys107SerfsTer?
NM_001195799.1:c.195_213del NP_001182728.1:p.Lys66SerfsTer?
NM_001195800.1:c.314-2168_314-2150del NP_001182729.1:n.314-2168_314-2150del
NM_001195803.1:c.314-1341_314-1323del NP_001182732.1:n.314-1341_314-1323del
XM_011528010.1:c.318_336del XP_011526312.1:p.Lys107SerfsTer?
XM_011528011.1:c.314-1341_314-1323del XP_011526313.1:n.314-1341_314-1323del
XR_244074.2:n.468_486del
XM_011528010.2:c.318_336del XP_011526312.1:p.Lys107SerfsTer?
XR_001753685.2:n.435_453del
XR_001753686.2:n.435_453del
NM_000527.5:c.318_336del MANE Select NP_000518.1:p.Lys107SerfsTer?
NM_001195798.2:c.318_336del NP_001182727.1:p.Lys107SerfsTer?
NM_001195799.2:c.195_213del NP_001182728.1:p.Lys66SerfsTer?
NM_001195800.2:c.314-2168_314-2150del NP_001182729.1:n.314-2168_314-2150del
NM_001195803.2:c.314-1341_314-1323del NP_001182732.1:n.314-1341_314-1323del