Canonical Allele Identifier: CA2322779580
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128099_11128109delinsGGTCCCCCAGC , CM000681.2:g.11128099_11128109delinsGGTCCCCCAGC GRCh38
NC_000019.9:g.11238775_11238785delinsGGTCCCCCAGC , CM000681.1:g.11238775_11238785delinsGGTCCCCCAGC GRCh37
NC_000019.8:g.11099775_11099785delinsGGTCCCCCAGC NCBI36
NG_009060.1:g.43719_43729delinsGGTCCCCCAGC , LRG_274:g.43719_43729delinsGGTCCCCCAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2647+14_2647+24delinsGGTCCCCCAGC ENSP00000252444.6:n.2647+14_2647+24delinsGGTCCCCCAGC
ENST00000559340.2:c.*458+14_*458+24delinsGGTCCCCCAGC ENSP00000453696.2:n.*458+14_*458+24delinsGGTCCCCCAGC
ENST00000560467.2:c.2269+14_2269+24delinsGGTCCCCCAGC ENSP00000453513.2:n.2269+14_2269+24delinsGGTCCCCCAGC
ENST00000558518.6:c.2389+14_2389+24delinsGGTCCCCCAGC MANE Select ENSP00000454071.1:n.2389+14_2389+24delinsGGTCCCCCAGC
ENST00000252444.9:c.2643+14_2643+24delinsGGTCCCCCAGC
ENST00000455727.6:c.1885+14_1885+24delinsGGTCCCCCAGC ENSP00000397829.2:n.1885+14_1885+24delinsGGTCCCCCAGC
ENST00000535915.5:c.2266+14_2266+24delinsGGTCCCCCAGC ENSP00000440520.1:n.2266+14_2266+24delinsGGTCCCCCAGC
ENST00000545707.5:c.1855+14_1855+24delinsGGTCCCCCAGC ENSP00000437639.1:n.1855+14_1855+24delinsGGTCCCCCAGC
ENST00000557933.5:c.2389+14_2389+24delinsGGTCCCCCAGC ENSP00000453557.1:n.2389+14_2389+24delinsGGTCCCCCAGC
ENST00000558013.5:c.2389+14_2389+24delinsGGTCCCCCAGC ENSP00000453346.1:n.2389+14_2389+24delinsGGTCCCCCAGC
ENST00000558518.5:c.2389+14_2389+24delinsGGTCCCCCAGC ENSP00000454071.1:n.2389+14_2389+24delinsGGTCCCCCAGC
ENST00000560628.1:n.108+445_108+455delinsGGTCCCCCAGC
NM_000527.4:c.2389+14_2389+24delinsGGTCCCCCAGC , LRG_274t1:c.2389+14_2389+24delinsGGTCCCCCAGC NP_000518.1:n.2389+14_2389+24delinsGGTCCCCCAGC
NM_001195798.1:c.2389+14_2389+24delinsGGTCCCCCAGC NP_001182727.1:n.2389+14_2389+24delinsGGTCCCCCAGC
NM_001195799.1:c.2266+14_2266+24delinsGGTCCCCCAGC NP_001182728.1:n.2266+14_2266+24delinsGGTCCCCCAGC
NM_001195800.1:c.1885+14_1885+24delinsGGTCCCCCAGC NP_001182729.1:n.1885+14_1885+24delinsGGTCCCCCAGC
NM_001195803.1:c.1855+14_1855+24delinsGGTCCCCCAGC NP_001182732.1:n.1855+14_1855+24delinsGGTCCCCCAGC
XM_011528010.1:c.2312-1414_2312-1404delinsGGTCCCCCAGC XP_011526312.1:n.2312-1414_2312-1404delinsGGTCCCCCAGC
XM_011528011.1:c.2008+14_2008+24delinsGGTCCCCCAGC XP_011526313.1:n.2008+14_2008+24delinsGGTCCCCCAGC
XR_244074.2:n.2399+14_2399+24delinsGGTCCCCCAGC
XM_011528010.2:c.2312-1414_2312-1404delinsGGTCCCCCAGC XP_011526312.1:n.2312-1414_2312-1404delinsGGTCCCCCAGC
XR_001753685.2:n.2723+14_2723+24delinsGGTCCCCCAGC
XR_001753686.2:n.2366+14_2366+24delinsGGTCCCCCAGC
NM_000527.5:c.2389+14_2389+24delinsGGTCCCCCAGC MANE Select NP_000518.1:n.2389+14_2389+24delinsGGTCCCCCAGC
NM_001195798.2:c.2389+14_2389+24delinsGGTCCCCCAGC NP_001182727.1:n.2389+14_2389+24delinsGGTCCCCCAGC
NM_001195799.2:c.2266+14_2266+24delinsGGTCCCCCAGC NP_001182728.1:n.2266+14_2266+24delinsGGTCCCCCAGC
NM_001195800.2:c.1885+14_1885+24delinsGGTCCCCCAGC NP_001182729.1:n.1885+14_1885+24delinsGGTCCCCCAGC
NM_001195803.2:c.1855+14_1855+24delinsGGTCCCCCAGC NP_001182732.1:n.1855+14_1855+24delinsGGTCCCCCAGC