Canonical Allele Identifier: CA2497030124
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1455437
ClinVar RCV Id: RCV001946587
dbSNP Id: rs2147225024

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105526_11105532del , CM000681.2:g.11105526_11105532del GRCh38
NC_000019.9:g.11216202_11216208del , CM000681.1:g.11216202_11216208del GRCh37
NC_000019.8:g.11077202_11077208del NCBI36
NG_009060.1:g.21146_21152del , LRG_274:g.21146_21152del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.878_884del ENSP00000252444.6:p.Gly293AlafsTer?
ENST00000559340.2:c.620_626del ENSP00000453696.2:p.Gly207AlafsTer?
ENST00000560467.2:c.620_626del ENSP00000453513.2:p.Gly207AlafsTer?
ENST00000558518.6:c.620_626del MANE Select ENSP00000454071.1:p.Gly207AlafsTer?
ENST00000252444.9:c.874_880del
ENST00000455727.6:c.314-1866_314-1860del ENSP00000397829.2:n.314-1866_314-1860del
ENST00000535915.5:c.497_503del ENSP00000440520.1:p.Gly166AlafsTer?
ENST00000545707.5:c.314-1039_314-1033del ENSP00000437639.1:n.314-1039_314-1033del
ENST00000557933.5:c.620_626del ENSP00000453557.1:p.Gly207AlafsTer?
ENST00000558013.5:c.620_626del ENSP00000453346.1:p.Gly207AlafsTer?
ENST00000558518.5:c.620_626del ENSP00000454071.1:p.Gly207AlafsTer?
ENST00000560467.1:c.220_226del
NM_000527.4:c.620_626del , LRG_274t1:c.620_626del NP_000518.1:p.Gly207AlafsTer?
NM_001195798.1:c.620_626del NP_001182727.1:p.Gly207AlafsTer?
NM_001195799.1:c.497_503del NP_001182728.1:p.Gly166AlafsTer?
NM_001195800.1:c.314-1866_314-1860del NP_001182729.1:n.314-1866_314-1860del
NM_001195803.1:c.314-1039_314-1033del NP_001182732.1:n.314-1039_314-1033del
XM_011528010.1:c.620_626del XP_011526312.1:p.Gly207AlafsTer?
XM_011528011.1:c.314-1039_314-1033del XP_011526313.1:n.314-1039_314-1033del
XR_244074.2:n.770_776del
XM_011528010.2:c.620_626del XP_011526312.1:p.Gly207AlafsTer?
XR_001753685.2:n.737_743del
XR_001753686.2:n.737_743del
NM_000527.5:c.620_626del MANE Select NP_000518.1:p.Gly207AlafsTer?
NM_001195798.2:c.620_626del NP_001182727.1:p.Gly207AlafsTer?
NM_001195799.2:c.497_503del NP_001182728.1:p.Gly166AlafsTer?
NM_001195800.2:c.314-1866_314-1860del NP_001182729.1:n.314-1866_314-1860del
NM_001195803.2:c.314-1039_314-1033del NP_001182732.1:n.314-1039_314-1033del