Canonical Allele Identifier: CA2322777217
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123260_11123261delinsAC , CM000681.2:g.11123260_11123261delinsAC GRCh38
NC_000019.9:g.11233936_11233937delinsAC , CM000681.1:g.11233936_11233937delinsAC GRCh37
NC_000019.8:g.11094936_11094937delinsAC NCBI36
NG_009060.1:g.38880_38881delinsAC , LRG_274:g.38880_38881delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2485_2486delinsAC ENSP00000252444.6:p.Thr829=
ENST00000559340.2:c.*296_*297delinsAC ENSP00000453696.2:n.*296_*297delinsAC
ENST00000560467.2:c.2107_2108delinsAC ENSP00000453513.2:p.Thr703=
ENST00000558518.6:c.2227_2228delinsAC MANE Select ENSP00000454071.1:p.Thr743=
ENST00000252444.9:c.2481_2482delinsAC
ENST00000455727.6:c.1723_1724delinsAC ENSP00000397829.2:p.Thr575=
ENST00000535915.5:c.2104_2105delinsAC ENSP00000440520.1:p.Thr702=
ENST00000545707.5:c.1693_1694delinsAC ENSP00000437639.1:p.Thr565=
ENST00000557933.5:c.2227_2228delinsAC ENSP00000453557.1:p.Thr743=
ENST00000558013.5:c.2227_2228delinsAC ENSP00000453346.1:p.Thr743=
ENST00000558518.5:c.2227_2228delinsAC ENSP00000454071.1:p.Thr743=
NM_000527.4:c.2227_2228delinsAC , LRG_274t1:c.2227_2228delinsAC NP_000518.1:p.Thr743=
NM_001195798.1:c.2227_2228delinsAC NP_001182727.1:p.Thr743=
NM_001195799.1:c.2104_2105delinsAC NP_001182728.1:p.Thr702=
NM_001195800.1:c.1723_1724delinsAC NP_001182729.1:p.Thr575=
NM_001195803.1:c.1693_1694delinsAC NP_001182732.1:p.Thr565=
XM_011528010.1:c.2227_2228delinsAC XP_011526312.1:p.Thr743=
XM_011528011.1:c.1846_1847delinsAC XP_011526313.1:p.Thr616=
XR_244074.2:n.2237_2238delinsAC
XM_011528010.2:c.2227_2228delinsAC XP_011526312.1:p.Thr743=
XR_001753685.2:n.2561_2562delinsAC
XR_001753686.2:n.2204_2205delinsAC
NM_000527.5:c.2227_2228delinsAC MANE Select NP_000518.1:p.Thr743=
NM_001195798.2:c.2227_2228delinsAC NP_001182727.1:p.Thr743=
NM_001195799.2:c.2104_2105delinsAC NP_001182728.1:p.Thr702=
NM_001195800.2:c.1723_1724delinsAC NP_001182729.1:p.Thr575=
NM_001195803.2:c.1693_1694delinsAC NP_001182732.1:p.Thr565=