Canonical Allele Identifier: CA10585768
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252214
dbSNP Id: rs879255135

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120474del , CM000681.2:g.11120474del GRCh38
NC_000019.9:g.11231150del , CM000681.1:g.11231150del GRCh37
NC_000019.8:g.11092150del NCBI36
NG_009060.1:g.36094del , LRG_274:g.36094del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2350del ENSP00000252444.6:p.Cys784AlafsTer11
ENST00000559340.2:c.*161del ENSP00000453696.2:n.*161del
ENST00000560467.2:c.1972del ENSP00000453513.2:p.Cys658AlafsTer11
ENST00000558518.6:c.2092del MANE Select ENSP00000454071.1:p.Cys698AlafsTer11
ENST00000252444.9:c.2346del
ENST00000455727.6:c.1588del ENSP00000397829.2:p.Cys530AlafsTer11
ENST00000535915.5:c.1969del ENSP00000440520.1:p.Cys657AlafsTer11
ENST00000545707.5:c.1606+241del ENSP00000437639.1:n.1606+241del
ENST00000557933.5:c.2092del ENSP00000453557.1:p.Cys698AlafsTer11
ENST00000558013.5:c.2092del ENSP00000453346.1:p.Cys698AlafsTer11
ENST00000558518.5:c.2092del ENSP00000454071.1:p.Cys698AlafsTer11
NM_000527.4:c.2092del , LRG_274t1:c.2092del NP_000518.1:p.Cys698AlafsTer11
NM_001195798.1:c.2092del NP_001182727.1:p.Cys698AlafsTer11
NM_001195799.1:c.1969del NP_001182728.1:p.Cys657AlafsTer11
NM_001195800.1:c.1588del NP_001182729.1:p.Cys530AlafsTer11
NM_001195803.1:c.1606+241del NP_001182732.1:n.1606+241del
XM_011528010.1:c.2092del XP_011526312.1:p.Cys698AlafsTer11
XM_011528011.1:c.1711del XP_011526313.1:p.Cys571AlafsTer11
XR_244074.2:n.2102del
XM_011528010.2:c.2092del XP_011526312.1:p.Cys698AlafsTer11
XR_001753685.2:n.2209del
XR_001753686.2:n.2069del
NM_000527.5:c.2092del MANE Select NP_000518.1:p.Cys698AlafsTer11
NM_001195798.2:c.2092del NP_001182727.1:p.Cys698AlafsTer11
NM_001195799.2:c.1969del NP_001182728.1:p.Cys657AlafsTer11
NM_001195800.2:c.1588del NP_001182729.1:p.Cys530AlafsTer11
NM_001195803.2:c.1606+241del NP_001182732.1:n.1606+241del