Canonical Allele Identifier: CA2695228316
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123197del , CM000681.2:g.11123197del GRCh38
NC_000019.9:g.11233873del , CM000681.1:g.11233873del GRCh37
NC_000019.8:g.11094873del NCBI36
NG_009060.1:g.38817del , LRG_274:g.38817del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2422del ENSP00000252444.6:p.Gln808ArgfsTer8
ENST00000559340.2:c.*233del ENSP00000453696.2:n.*233del
ENST00000560467.2:c.2044del ENSP00000453513.2:p.Gln682ArgfsTer8
ENST00000558518.6:c.2164del MANE Select ENSP00000454071.1:p.Gln722ArgfsTer8
ENST00000252444.9:c.2418del
ENST00000455727.6:c.1660del ENSP00000397829.2:p.Gln554ArgfsTer8
ENST00000535915.5:c.2041del ENSP00000440520.1:p.Gln681ArgfsTer8
ENST00000545707.5:c.1630del ENSP00000437639.1:p.Gln544ArgfsTer8
ENST00000557933.5:c.2164del ENSP00000453557.1:p.Gln722ArgfsTer8
ENST00000558013.5:c.2164del ENSP00000453346.1:p.Gln722ArgfsTer8
ENST00000558518.5:c.2164del ENSP00000454071.1:p.Gln722ArgfsTer8
NM_000527.4:c.2164del , LRG_274t1:c.2164del NP_000518.1:p.Gln722ArgfsTer8
NM_001195798.1:c.2164del NP_001182727.1:p.Gln722ArgfsTer8
NM_001195799.1:c.2041del NP_001182728.1:p.Gln681ArgfsTer8
NM_001195800.1:c.1660del NP_001182729.1:p.Gln554ArgfsTer8
NM_001195803.1:c.1630del NP_001182732.1:p.Gln544ArgfsTer8
XM_011528010.1:c.2164del XP_011526312.1:p.Gln722ArgfsTer8
XM_011528011.1:c.1783del XP_011526313.1:p.Gln595ArgfsTer8
XR_244074.2:n.2174del
XM_011528010.2:c.2164del XP_011526312.1:p.Gln722ArgfsTer8
XR_001753685.2:n.2498del
XR_001753686.2:n.2141del
NM_000527.5:c.2164del MANE Select NP_000518.1:p.Gln722ArgfsTer8
NM_001195798.2:c.2164del NP_001182727.1:p.Gln722ArgfsTer8
NM_001195799.2:c.2041del NP_001182728.1:p.Gln681ArgfsTer8
NM_001195800.2:c.1660del NP_001182729.1:p.Gln554ArgfsTer8
NM_001195803.2:c.1630del NP_001182732.1:p.Gln544ArgfsTer8