Canonical Allele Identifier: CA2695228162
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113297del , CM000681.2:g.11113297del GRCh38
NC_000019.9:g.11223973del , CM000681.1:g.11223973del GRCh37
NC_000019.8:g.11084973del NCBI36
NG_009060.1:g.28917del , LRG_274:g.28917del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1464del ENSP00000252444.6:p.Phe489SerfsTer10
ENST00000559340.2:c.1206del ENSP00000453696.2:p.Phe403SerfsTer10
ENST00000560467.2:c.1086del ENSP00000453513.2:p.Phe363SerfsTer10
ENST00000558518.6:c.1206del MANE Select ENSP00000454071.1:p.Phe403SerfsTer10
ENST00000252444.9:c.1460del
ENST00000455727.6:c.702del ENSP00000397829.2:p.Phe235SerfsTer10
ENST00000535915.5:c.1083del ENSP00000440520.1:p.Phe362SerfsTer10
ENST00000545707.5:c.825del ENSP00000437639.1:p.Phe276SerfsTer10
ENST00000557933.5:c.1206del ENSP00000453557.1:p.Phe403SerfsTer10
ENST00000558013.5:c.1206del ENSP00000453346.1:p.Phe403SerfsTer10
ENST00000558518.5:c.1206del ENSP00000454071.1:p.Phe403SerfsTer10
ENST00000560173.1:n.205del
ENST00000560467.1:c.686del
NM_000527.4:c.1206del , LRG_274t1:c.1206del NP_000518.1:p.Phe403SerfsTer10
NM_001195798.1:c.1206del NP_001182727.1:p.Phe403SerfsTer10
NM_001195799.1:c.1083del NP_001182728.1:p.Phe362SerfsTer10
NM_001195800.1:c.702del NP_001182729.1:p.Phe235SerfsTer10
NM_001195803.1:c.825del NP_001182732.1:p.Phe276SerfsTer10
XM_011528010.1:c.1206del XP_011526312.1:p.Phe403SerfsTer10
XM_011528011.1:c.825del XP_011526313.1:p.Phe276SerfsTer10
XR_244074.2:n.1356del
XM_011528010.2:c.1206del XP_011526312.1:p.Phe403SerfsTer10
XR_001753685.2:n.1323del
XR_001753686.2:n.1323del
NM_000527.5:c.1206del MANE Select NP_000518.1:p.Phe403SerfsTer10
NM_001195798.2:c.1206del NP_001182727.1:p.Phe403SerfsTer10
NM_001195799.2:c.1083del NP_001182728.1:p.Phe362SerfsTer10
NM_001195800.2:c.702del NP_001182729.1:p.Phe235SerfsTer10
NM_001195803.2:c.825del NP_001182732.1:p.Phe276SerfsTer10