Canonical Allele Identifier: CA10585763
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252209
ClinVar RCV Id: RCV000237124
dbSNP Id: rs879255133

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120467_11120485del , CM000681.2:g.11120467_11120485del GRCh38
NC_000019.9:g.11231143_11231161del , CM000681.1:g.11231143_11231161del GRCh37
NC_000019.8:g.11092143_11092161del NCBI36
NG_009060.1:g.36087_36105del , LRG_274:g.36087_36105del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2343_2361del ENSP00000252444.6:p.Ala783CysfsTer6
ENST00000559340.2:c.*154_*172del ENSP00000453696.2:n.*154_*172del
ENST00000560467.2:c.1965_1983del ENSP00000453513.2:p.Ala657CysfsTer6
ENST00000558518.6:c.2085_2103del MANE Select ENSP00000454071.1:p.Ala697CysfsTer6
ENST00000252444.9:c.2339_2357del
ENST00000455727.6:c.1581_1599del ENSP00000397829.2:p.Ala529CysfsTer6
ENST00000535915.5:c.1962_1980del ENSP00000440520.1:p.Ala656CysfsTer6
ENST00000545707.5:c.1606+234_1606+252del ENSP00000437639.1:n.1606+234_1606+252del
ENST00000557933.5:c.2085_2103del ENSP00000453557.1:p.Ala697CysfsTer6
ENST00000558013.5:c.2085_2103del ENSP00000453346.1:p.Ala697CysfsTer6
ENST00000558518.5:c.2085_2103del ENSP00000454071.1:p.Ala697CysfsTer6
NM_000527.4:c.2085_2103del , LRG_274t1:c.2085_2103del NP_000518.1:p.Ala697CysfsTer6
NM_001195798.1:c.2085_2103del NP_001182727.1:p.Ala697CysfsTer6
NM_001195799.1:c.1962_1980del NP_001182728.1:p.Ala656CysfsTer6
NM_001195800.1:c.1581_1599del NP_001182729.1:p.Ala529CysfsTer6
NM_001195803.1:c.1606+234_1606+252del NP_001182732.1:n.1606+234_1606+252del
XM_011528010.1:c.2085_2103del XP_011526312.1:p.Ala697CysfsTer6
XM_011528011.1:c.1704_1722del XP_011526313.1:p.Ala570CysfsTer6
XR_244074.2:n.2095_2113del
XM_011528010.2:c.2085_2103del XP_011526312.1:p.Ala697CysfsTer6
XR_001753685.2:n.2202_2220del
XR_001753686.2:n.2062_2080del
NM_000527.5:c.2085_2103del MANE Select NP_000518.1:p.Ala697CysfsTer6
NM_001195798.2:c.2085_2103del NP_001182727.1:p.Ala697CysfsTer6
NM_001195799.2:c.1962_1980del NP_001182728.1:p.Ala656CysfsTer6
NM_001195800.2:c.1581_1599del NP_001182729.1:p.Ala529CysfsTer6
NM_001195803.2:c.1606+234_1606+252del NP_001182732.1:n.1606+234_1606+252del