Canonical Allele Identifier: CA2697556254
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2744437
ClinVar RCV Id: RCV003582747

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120199_11120211del , CM000681.2:g.11120199_11120211del GRCh38
NC_000019.9:g.11230875_11230887del , CM000681.1:g.11230875_11230887del GRCh37
NC_000019.8:g.11091875_11091887del NCBI36
NG_009060.1:g.35819_35831del , LRG_274:g.35819_35831del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2211_2223del ENSP00000252444.6:p.Met738ThrfsTer9
ENST00000559340.2:c.*22_*34del ENSP00000453696.2:n.*22_*34del
ENST00000560467.2:c.1833_1845del ENSP00000453513.2:p.Met612ThrfsTer9
ENST00000558518.6:c.1953_1965del MANE Select ENSP00000454071.1:p.Met652ThrfsTer9
ENST00000252444.9:c.2207_2219del
ENST00000455727.6:c.1449_1461del ENSP00000397829.2:p.Met484ThrfsTer9
ENST00000535915.5:c.1830_1842del ENSP00000440520.1:p.Met611ThrfsTer9
ENST00000545707.5:c.1572_1584del ENSP00000437639.1:p.Met525ThrfsTer23
ENST00000557933.5:c.1953_1965del ENSP00000453557.1:p.Met652ThrfsTer9
ENST00000558013.5:c.1953_1965del ENSP00000453346.1:p.Met652ThrfsTer9
ENST00000558518.5:c.1953_1965del ENSP00000454071.1:p.Met652ThrfsTer9
ENST00000559340.1:c.534_546del
NM_000527.4:c.1953_1965del , LRG_274t1:c.1953_1965del NP_000518.1:p.Met652ThrfsTer9
NM_001195798.1:c.1953_1965del NP_001182727.1:p.Met652ThrfsTer9
NM_001195799.1:c.1830_1842del NP_001182728.1:p.Met611ThrfsTer9
NM_001195800.1:c.1449_1461del NP_001182729.1:p.Met484ThrfsTer9
NM_001195803.1:c.1572_1584del NP_001182732.1:p.Met525ThrfsTer23
XM_011528010.1:c.1953_1965del XP_011526312.1:p.Met652ThrfsTer9
XM_011528011.1:c.1572_1584del XP_011526313.1:p.Met525ThrfsTer9
XR_244074.2:n.1963_1975del
XM_011528010.2:c.1953_1965del XP_011526312.1:p.Met652ThrfsTer9
XR_001753685.2:n.2070_2082del
XR_001753686.2:n.1930_1942del
NM_000527.5:c.1953_1965del MANE Select NP_000518.1:p.Met652ThrfsTer9
NM_001195798.2:c.1953_1965del NP_001182727.1:p.Met652ThrfsTer9
NM_001195799.2:c.1830_1842del NP_001182728.1:p.Met611ThrfsTer9
NM_001195800.2:c.1449_1461del NP_001182729.1:p.Met484ThrfsTer9
NM_001195803.2:c.1572_1584del NP_001182732.1:p.Met525ThrfsTer23