Canonical Allele Identifier: CA2580096304
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1770817
ClinVar RCV Id: RCV002383474

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11100291_11100297del , CM000681.2:g.11100291_11100297del GRCh38
NC_000019.9:g.11210967_11210973del , CM000681.1:g.11210967_11210973del GRCh37
NC_000019.8:g.11071967_11071973del NCBI36
NG_009060.1:g.15911_15917del , LRG_274:g.15911_15917del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.394_400del ENSP00000252444.6:p.Cys132AlafsTer?
ENST00000559340.2:c.136_142del ENSP00000453696.2:p.Cys46AlafsTer?
ENST00000560467.2:c.136_142del ENSP00000453513.2:p.Cys46AlafsTer?
ENST00000558518.6:c.136_142del MANE Select ENSP00000454071.1:p.Cys46AlafsTer?
ENST00000252444.9:c.390_396del
ENST00000455727.6:c.136_142del ENSP00000397829.2:p.Cys46AlafsTer?
ENST00000535915.5:c.136_142del ENSP00000440520.1:p.Cys46AlafsTer?
ENST00000545707.5:c.136_142del ENSP00000437639.1:p.Cys46AlafsTer?
ENST00000557933.5:c.136_142del ENSP00000453557.1:p.Cys46AlafsTer?
ENST00000557958.1:n.222_228del
ENST00000558013.5:c.136_142del ENSP00000453346.1:p.Cys46AlafsTer?
ENST00000558518.5:c.136_142del ENSP00000454071.1:p.Cys46AlafsTer?
ENST00000560502.5:n.222_228del
NM_000527.4:c.136_142del , LRG_274t1:c.136_142del NP_000518.1:p.Cys46AlafsTer?
NM_001195798.1:c.136_142del NP_001182727.1:p.Cys46AlafsTer?
NM_001195799.1:c.136_142del NP_001182728.1:p.Cys46AlafsTer?
NM_001195800.1:c.136_142del NP_001182729.1:p.Cys46AlafsTer?
NM_001195803.1:c.136_142del NP_001182732.1:p.Cys46AlafsTer?
XM_011528010.1:c.136_142del XP_011526312.1:p.Cys46AlafsTer?
XM_011528011.1:c.136_142del XP_011526313.1:p.Cys46AlafsTer?
XR_244074.2:n.286_292del
XM_011528010.2:c.136_142del XP_011526312.1:p.Cys46AlafsTer?
XR_001753685.2:n.253_259del
XR_001753686.2:n.253_259del
NM_000527.5:c.136_142del MANE Select NP_000518.1:p.Cys46AlafsTer?
NM_001195798.2:c.136_142del NP_001182727.1:p.Cys46AlafsTer?
NM_001195799.2:c.136_142del NP_001182728.1:p.Cys46AlafsTer?
NM_001195800.2:c.136_142del NP_001182729.1:p.Cys46AlafsTer?
NM_001195803.2:c.136_142del NP_001182732.1:p.Cys46AlafsTer?