Canonical Allele Identifier: CA2497030036
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120423_11120424del , CM000681.2:g.11120423_11120424del GRCh38
NC_000019.9:g.11231099_11231100del , CM000681.1:g.11231099_11231100del GRCh37
NC_000019.8:g.11092099_11092100del NCBI36
NG_009060.1:g.36043_36044del , LRG_274:g.36043_36044del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2299_2300del ENSP00000252444.6:p.Cys767ProfsTer?
ENST00000559340.2:c.*110_*111del ENSP00000453696.2:n.*110_*111del
ENST00000560467.2:c.1921_1922del ENSP00000453513.2:p.Cys641ProfsTer?
ENST00000558518.6:c.2041_2042del MANE Select ENSP00000454071.1:p.Cys681ProfsTer?
ENST00000252444.9:c.2295_2296del
ENST00000455727.6:c.1537_1538del ENSP00000397829.2:p.Cys513ProfsTer?
ENST00000535915.5:c.1918_1919del ENSP00000440520.1:p.Cys640ProfsTer?
ENST00000545707.5:c.1606+190_1606+191del ENSP00000437639.1:n.1606+190_1606+191del
ENST00000557933.5:c.2041_2042del ENSP00000453557.1:p.Cys681ProfsTer?
ENST00000558013.5:c.2041_2042del ENSP00000453346.1:p.Cys681ProfsTer?
ENST00000558518.5:c.2041_2042del ENSP00000454071.1:p.Cys681ProfsTer?
NM_000527.4:c.2041_2042del , LRG_274t1:c.2041_2042del NP_000518.1:p.Cys681ProfsTer?
NM_001195798.1:c.2041_2042del NP_001182727.1:p.Cys681ProfsTer?
NM_001195799.1:c.1918_1919del NP_001182728.1:p.Cys640ProfsTer?
NM_001195800.1:c.1537_1538del NP_001182729.1:p.Cys513ProfsTer?
NM_001195803.1:c.1606+190_1606+191del NP_001182732.1:n.1606+190_1606+191del
XM_011528010.1:c.2041_2042del XP_011526312.1:p.Cys681ProfsTer?
XM_011528011.1:c.1660_1661del XP_011526313.1:p.Cys554ProfsTer?
XR_244074.2:n.2051_2052del
XM_011528010.2:c.2041_2042del XP_011526312.1:p.Cys681ProfsTer?
XR_001753685.2:n.2158_2159del
XR_001753686.2:n.2018_2019del
NM_000527.5:c.2041_2042del MANE Select NP_000518.1:p.Cys681ProfsTer?
NM_001195798.2:c.2041_2042del NP_001182727.1:p.Cys681ProfsTer?
NM_001195799.2:c.1918_1919del NP_001182728.1:p.Cys640ProfsTer?
NM_001195800.2:c.1537_1538del NP_001182729.1:p.Cys513ProfsTer?
NM_001195803.2:c.1606+190_1606+191del NP_001182732.1:n.1606+190_1606+191del