Canonical Allele Identifier: CA351943
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 222689
dbSNP Id: rs869025454

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113662_11113663del , CM000681.2:g.11113662_11113663del GRCh38
NC_000019.9:g.11224338_11224339del , CM000681.1:g.11224338_11224339del GRCh37
NC_000019.8:g.11085338_11085339del NCBI36
NG_009060.1:g.29282_29283del , LRG_274:g.29282_29283del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1744_1745del ENSP00000252444.6:p.Gly582HisfsTer?
ENST00000559340.2:c.1486_1487del ENSP00000453696.2:p.Gly496HisfsTer?
ENST00000560467.2:c.1366_1367del ENSP00000453513.2:p.Gly456HisfsTer?
ENST00000558518.6:c.1486_1487del MANE Select ENSP00000454071.1:p.Gly496HisfsTer?
ENST00000252444.9:c.1740_1741del
ENST00000455727.6:c.982_983del ENSP00000397829.2:p.Gly328HisfsTer?
ENST00000535915.5:c.1363_1364del ENSP00000440520.1:p.Gly455HisfsTer?
ENST00000545707.5:c.1105_1106del ENSP00000437639.1:p.Gly369HisfsTer?
ENST00000557933.5:c.1486_1487del ENSP00000453557.1:p.Gly496HisfsTer?
ENST00000558013.5:c.1486_1487del ENSP00000453346.1:p.Gly496HisfsTer?
ENST00000558518.5:c.1486_1487del ENSP00000454071.1:p.Gly496HisfsTer?
ENST00000559340.1:c.207_208del
NM_000527.4:c.1486_1487del , LRG_274t1:c.1486_1487del NP_000518.1:p.Gly496HisfsTer?
NM_001195798.1:c.1486_1487del NP_001182727.1:p.Gly496HisfsTer?
NM_001195799.1:c.1363_1364del NP_001182728.1:p.Gly455HisfsTer?
NM_001195800.1:c.982_983del NP_001182729.1:p.Gly328HisfsTer?
NM_001195803.1:c.1105_1106del NP_001182732.1:p.Gly369HisfsTer?
XM_011528010.1:c.1486_1487del XP_011526312.1:p.Gly496HisfsTer?
XM_011528011.1:c.1105_1106del XP_011526313.1:p.Gly369HisfsTer?
XR_244074.2:n.1636_1637del
XM_011528010.2:c.1486_1487del XP_011526312.1:p.Gly496HisfsTer?
XR_001753685.2:n.1603_1604del
XR_001753686.2:n.1603_1604del
NM_000527.5:c.1486_1487del MANE Select NP_000518.1:p.Gly496HisfsTer?
NM_001195798.2:c.1486_1487del NP_001182727.1:p.Gly496HisfsTer?
NM_001195799.2:c.1363_1364del NP_001182728.1:p.Gly455HisfsTer?
NM_001195800.2:c.982_983del NP_001182729.1:p.Gly328HisfsTer?
NM_001195803.2:c.1105_1106del NP_001182732.1:p.Gly369HisfsTer?