Canonical Allele Identifier: CA2322775532
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120378_11120379delinsTG , CM000681.2:g.11120378_11120379delinsTG GRCh38
NC_000019.9:g.11231054_11231055delinsTG , CM000681.1:g.11231054_11231055delinsTG GRCh37
NC_000019.8:g.11092054_11092055delinsTG NCBI36
NG_009060.1:g.35998_35999delinsTG , LRG_274:g.35998_35999delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2254_2255delinsTG ENSP00000252444.6:p.Trp752=
ENST00000559340.2:c.*65_*66delinsTG ENSP00000453696.2:n.*65_*66delinsTG
ENST00000560467.2:c.1876_1877delinsTG ENSP00000453513.2:p.Trp626=
ENST00000558518.6:c.1996_1997delinsTG MANE Select ENSP00000454071.1:p.Trp666=
ENST00000252444.9:c.2250_2251delinsTG
ENST00000455727.6:c.1492_1493delinsTG ENSP00000397829.2:p.Trp498=
ENST00000535915.5:c.1873_1874delinsTG ENSP00000440520.1:p.Trp625=
ENST00000545707.5:c.1606+145_1606+146delinsTG ENSP00000437639.1:n.1606+145_1606+146delinsTG
ENST00000557933.5:c.1996_1997delinsTG ENSP00000453557.1:p.Trp666=
ENST00000558013.5:c.1996_1997delinsTG ENSP00000453346.1:p.Trp666=
ENST00000558518.5:c.1996_1997delinsTG ENSP00000454071.1:p.Trp666=
ENST00000559340.1:c.577_578delinsTG
NM_000527.4:c.1996_1997delinsTG , LRG_274t1:c.1996_1997delinsTG NP_000518.1:p.Trp666=
NM_001195798.1:c.1996_1997delinsTG NP_001182727.1:p.Trp666=
NM_001195799.1:c.1873_1874delinsTG NP_001182728.1:p.Trp625=
NM_001195800.1:c.1492_1493delinsTG NP_001182729.1:p.Trp498=
NM_001195803.1:c.1606+145_1606+146delinsTG NP_001182732.1:n.1606+145_1606+146delinsTG
XM_011528010.1:c.1996_1997delinsTG XP_011526312.1:p.Trp666=
XM_011528011.1:c.1615_1616delinsTG XP_011526313.1:p.Trp539=
XR_244074.2:n.2006_2007delinsTG
XM_011528010.2:c.1996_1997delinsTG XP_011526312.1:p.Trp666=
XR_001753685.2:n.2113_2114delinsTG
XR_001753686.2:n.1973_1974delinsTG
NM_000527.5:c.1996_1997delinsTG MANE Select NP_000518.1:p.Trp666=
NM_001195798.2:c.1996_1997delinsTG NP_001182727.1:p.Trp666=
NM_001195799.2:c.1873_1874delinsTG NP_001182728.1:p.Trp625=
NM_001195800.2:c.1492_1493delinsTG NP_001182729.1:p.Trp498=
NM_001195803.2:c.1606+145_1606+146delinsTG NP_001182732.1:n.1606+145_1606+146delinsTG