Canonical Allele Identifier: CA2322764552
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11099969_11099971delinsCAT , CM000681.2:g.11099969_11099971delinsCAT GRCh38
NC_000019.9:g.11210645_11210647delinsCAT , CM000681.1:g.11210645_11210647delinsCAT GRCh37
NC_000019.8:g.11071645_11071647delinsCAT NCBI36
NG_009060.1:g.15589_15591delinsCAT , LRG_274:g.15589_15591delinsCAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.326-254_326-252delinsCAT ENSP00000252444.6:n.326-254_326-252delinsCAT
ENST00000559340.2:c.68-254_68-252delinsCAT ENSP00000453696.2:n.68-254_68-252delinsCAT
ENST00000560467.2:c.68-254_68-252delinsCAT ENSP00000453513.2:n.68-254_68-252delinsCAT
ENST00000558518.6:c.68-254_68-252delinsCAT MANE Select ENSP00000454071.1:n.68-254_68-252delinsCAT
ENST00000252444.9:c.322-254_322-252delinsCAT
ENST00000455727.6:c.68-254_68-252delinsCAT ENSP00000397829.2:n.68-254_68-252delinsCAT
ENST00000535915.5:c.68-254_68-252delinsCAT ENSP00000440520.1:n.68-254_68-252delinsCAT
ENST00000545707.5:c.68-254_68-252delinsCAT ENSP00000437639.1:n.68-254_68-252delinsCAT
ENST00000557933.5:c.68-254_68-252delinsCAT ENSP00000453557.1:n.68-254_68-252delinsCAT
ENST00000557958.1:n.154-254_154-252delinsCAT
ENST00000558013.5:c.68-254_68-252delinsCAT ENSP00000453346.1:n.68-254_68-252delinsCAT
ENST00000558518.5:c.68-254_68-252delinsCAT ENSP00000454071.1:n.68-254_68-252delinsCAT
ENST00000560502.5:n.154-254_154-252delinsCAT
NM_000527.4:c.68-254_68-252delinsCAT , LRG_274t1:c.68-254_68-252delinsCAT NP_000518.1:n.68-254_68-252delinsCAT
NM_001195798.1:c.68-254_68-252delinsCAT NP_001182727.1:n.68-254_68-252delinsCAT
NM_001195799.1:c.68-254_68-252delinsCAT NP_001182728.1:n.68-254_68-252delinsCAT
NM_001195800.1:c.68-254_68-252delinsCAT NP_001182729.1:n.68-254_68-252delinsCAT
NM_001195803.1:c.68-254_68-252delinsCAT NP_001182732.1:n.68-254_68-252delinsCAT
XM_011528010.1:c.68-254_68-252delinsCAT XP_011526312.1:n.68-254_68-252delinsCAT
XM_011528011.1:c.68-254_68-252delinsCAT XP_011526313.1:n.68-254_68-252delinsCAT
XR_244074.2:n.218-254_218-252delinsCAT
XM_011528010.2:c.68-254_68-252delinsCAT XP_011526312.1:n.68-254_68-252delinsCAT
XR_001753685.2:n.185-254_185-252delinsCAT
XR_001753686.2:n.185-254_185-252delinsCAT
NM_000527.5:c.68-254_68-252delinsCAT MANE Select NP_000518.1:n.68-254_68-252delinsCAT
NM_001195798.2:c.68-254_68-252delinsCAT NP_001182727.1:n.68-254_68-252delinsCAT
NM_001195799.2:c.68-254_68-252delinsCAT NP_001182728.1:n.68-254_68-252delinsCAT
NM_001195800.2:c.68-254_68-252delinsCAT NP_001182729.1:n.68-254_68-252delinsCAT
NM_001195803.2:c.68-254_68-252delinsCAT NP_001182732.1:n.68-254_68-252delinsCAT