Canonical Allele Identifier: CA2322775429
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120208_11120209delinsCT , CM000681.2:g.11120208_11120209delinsCT GRCh38
NC_000019.9:g.11230884_11230885delinsCT , CM000681.1:g.11230884_11230885delinsCT GRCh37
NC_000019.8:g.11091884_11091885delinsCT NCBI36
NG_009060.1:g.35828_35829delinsCT , LRG_274:g.35828_35829delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2220_2221delinsCT ENSP00000252444.6:p.Leu740=
ENST00000559340.2:c.*31_*32delinsCT ENSP00000453696.2:n.*31_*32delinsCT
ENST00000560467.2:c.1842_1843delinsCT ENSP00000453513.2:p.Leu614=
ENST00000558518.6:c.1962_1963delinsCT MANE Select ENSP00000454071.1:p.Leu654=
ENST00000252444.9:c.2216_2217delinsCT
ENST00000455727.6:c.1458_1459delinsCT ENSP00000397829.2:p.Leu486=
ENST00000535915.5:c.1839_1840delinsCT ENSP00000440520.1:p.Leu613=
ENST00000545707.5:c.1581_1582delinsCT ENSP00000437639.1:p.Leu527=
ENST00000557933.5:c.1962_1963delinsCT ENSP00000453557.1:p.Leu654=
ENST00000558013.5:c.1962_1963delinsCT ENSP00000453346.1:p.Leu654=
ENST00000558518.5:c.1962_1963delinsCT ENSP00000454071.1:p.Leu654=
ENST00000559340.1:c.543_544delinsCT
NM_000527.4:c.1962_1963delinsCT , LRG_274t1:c.1962_1963delinsCT NP_000518.1:p.Leu654=
NM_001195798.1:c.1962_1963delinsCT NP_001182727.1:p.Leu654=
NM_001195799.1:c.1839_1840delinsCT NP_001182728.1:p.Leu613=
NM_001195800.1:c.1458_1459delinsCT NP_001182729.1:p.Leu486=
NM_001195803.1:c.1581_1582delinsCT NP_001182732.1:p.Leu527=
XM_011528010.1:c.1962_1963delinsCT XP_011526312.1:p.Leu654=
XM_011528011.1:c.1581_1582delinsCT XP_011526313.1:p.Leu527=
XR_244074.2:n.1972_1973delinsCT
XM_011528010.2:c.1962_1963delinsCT XP_011526312.1:p.Leu654=
XR_001753685.2:n.2079_2080delinsCT
XR_001753686.2:n.1939_1940delinsCT
NM_000527.5:c.1962_1963delinsCT MANE Select NP_000518.1:p.Leu654=
NM_001195798.2:c.1962_1963delinsCT NP_001182727.1:p.Leu654=
NM_001195799.2:c.1839_1840delinsCT NP_001182728.1:p.Leu613=
NM_001195800.2:c.1458_1459delinsCT NP_001182729.1:p.Leu486=
NM_001195803.2:c.1581_1582delinsCT NP_001182732.1:p.Leu527=