Canonical Allele Identifier: CA2322777244
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123299_11123300delinsAC , CM000681.2:g.11123299_11123300delinsAC GRCh38
NC_000019.9:g.11233975_11233976delinsAC , CM000681.1:g.11233975_11233976delinsAC GRCh37
NC_000019.8:g.11094975_11094976delinsAC NCBI36
NG_009060.1:g.38919_38920delinsAC , LRG_274:g.38919_38920delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2524_2525delinsAC ENSP00000252444.6:p.Thr842=
ENST00000559340.2:c.*335_*336delinsAC ENSP00000453696.2:n.*335_*336delinsAC
ENST00000560467.2:c.2146_2147delinsAC ENSP00000453513.2:p.Thr716=
ENST00000558518.6:c.2266_2267delinsAC MANE Select ENSP00000454071.1:p.Thr756=
ENST00000252444.9:c.2520_2521delinsAC
ENST00000455727.6:c.1762_1763delinsAC ENSP00000397829.2:p.Thr588=
ENST00000535915.5:c.2143_2144delinsAC ENSP00000440520.1:p.Thr715=
ENST00000545707.5:c.1732_1733delinsAC ENSP00000437639.1:p.Thr578=
ENST00000557933.5:c.2266_2267delinsAC ENSP00000453557.1:p.Thr756=
ENST00000558013.5:c.2266_2267delinsAC ENSP00000453346.1:p.Thr756=
ENST00000558518.5:c.2266_2267delinsAC ENSP00000454071.1:p.Thr756=
NM_000527.4:c.2266_2267delinsAC , LRG_274t1:c.2266_2267delinsAC NP_000518.1:p.Thr756=
NM_001195798.1:c.2266_2267delinsAC NP_001182727.1:p.Thr756=
NM_001195799.1:c.2143_2144delinsAC NP_001182728.1:p.Thr715=
NM_001195800.1:c.1762_1763delinsAC NP_001182729.1:p.Thr588=
NM_001195803.1:c.1732_1733delinsAC NP_001182732.1:p.Thr578=
XM_011528010.1:c.2266_2267delinsAC XP_011526312.1:p.Thr756=
XM_011528011.1:c.1885_1886delinsAC XP_011526313.1:p.Thr629=
XR_244074.2:n.2276_2277delinsAC
XM_011528010.2:c.2266_2267delinsAC XP_011526312.1:p.Thr756=
XR_001753685.2:n.2600_2601delinsAC
XR_001753686.2:n.2243_2244delinsAC
NM_000527.5:c.2266_2267delinsAC MANE Select NP_000518.1:p.Thr756=
NM_001195798.2:c.2266_2267delinsAC NP_001182727.1:p.Thr756=
NM_001195799.2:c.2143_2144delinsAC NP_001182728.1:p.Thr715=
NM_001195800.2:c.1762_1763delinsAC NP_001182729.1:p.Thr588=
NM_001195803.2:c.1732_1733delinsAC NP_001182732.1:p.Thr578=