Canonical Allele Identifier: CA2322777201
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123231_11123233delinsCCA , CM000681.2:g.11123231_11123233delinsCCA GRCh38
NC_000019.9:g.11233907_11233909delinsCCA , CM000681.1:g.11233907_11233909delinsCCA GRCh37
NC_000019.8:g.11094907_11094909delinsCCA NCBI36
NG_009060.1:g.38851_38853delinsCCA , LRG_274:g.38851_38853delinsCCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2456_2458delinsCCA ENSP00000252444.6:p.Ser819=
ENST00000559340.2:c.*267_*269delinsCCA ENSP00000453696.2:n.*267_*269delinsCCA
ENST00000560467.2:c.2078_2080delinsCCA ENSP00000453513.2:p.Ser693=
ENST00000558518.6:c.2198_2200delinsCCA MANE Select ENSP00000454071.1:p.Ser733=
ENST00000252444.9:c.2452_2454delinsCCA
ENST00000455727.6:c.1694_1696delinsCCA ENSP00000397829.2:p.Ser565=
ENST00000535915.5:c.2075_2077delinsCCA ENSP00000440520.1:p.Ser692=
ENST00000545707.5:c.1664_1666delinsCCA ENSP00000437639.1:p.Ser555=
ENST00000557933.5:c.2198_2200delinsCCA ENSP00000453557.1:p.Ser733=
ENST00000558013.5:c.2198_2200delinsCCA ENSP00000453346.1:p.Ser733=
ENST00000558518.5:c.2198_2200delinsCCA ENSP00000454071.1:p.Ser733=
NM_000527.4:c.2198_2200delinsCCA , LRG_274t1:c.2198_2200delinsCCA NP_000518.1:p.Ser733=
NM_001195798.1:c.2198_2200delinsCCA NP_001182727.1:p.Ser733=
NM_001195799.1:c.2075_2077delinsCCA NP_001182728.1:p.Ser692=
NM_001195800.1:c.1694_1696delinsCCA NP_001182729.1:p.Ser565=
NM_001195803.1:c.1664_1666delinsCCA NP_001182732.1:p.Ser555=
XM_011528010.1:c.2198_2200delinsCCA XP_011526312.1:p.Ser733=
XM_011528011.1:c.1817_1819delinsCCA XP_011526313.1:p.Ser606=
XR_244074.2:n.2208_2210delinsCCA
XM_011528010.2:c.2198_2200delinsCCA XP_011526312.1:p.Ser733=
XR_001753685.2:n.2532_2534delinsCCA
XR_001753686.2:n.2175_2177delinsCCA
NM_000527.5:c.2198_2200delinsCCA MANE Select NP_000518.1:p.Ser733=
NM_001195798.2:c.2198_2200delinsCCA NP_001182727.1:p.Ser733=
NM_001195799.2:c.2075_2077delinsCCA NP_001182728.1:p.Ser692=
NM_001195800.2:c.1694_1696delinsCCA NP_001182729.1:p.Ser565=
NM_001195803.2:c.1664_1666delinsCCA NP_001182732.1:p.Ser555=