Canonical Allele Identifier: CA2322775539
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120382_11120383delinsGT , CM000681.2:g.11120382_11120383delinsGT GRCh38
NC_000019.9:g.11231058_11231059delinsGT , CM000681.1:g.11231058_11231059delinsGT GRCh37
NC_000019.8:g.11092058_11092059delinsGT NCBI36
NG_009060.1:g.36002_36003delinsGT , LRG_274:g.36002_36003delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2258_2259delinsGT ENSP00000252444.6:p.Cys753=
ENST00000559340.2:c.*69_*70delinsGT ENSP00000453696.2:n.*69_*70delinsGT
ENST00000560467.2:c.1880_1881delinsGT ENSP00000453513.2:p.Cys627=
ENST00000558518.6:c.2000_2001delinsGT MANE Select ENSP00000454071.1:p.Cys667=
ENST00000252444.9:c.2254_2255delinsGT
ENST00000455727.6:c.1496_1497delinsGT ENSP00000397829.2:p.Cys499=
ENST00000535915.5:c.1877_1878delinsGT ENSP00000440520.1:p.Cys626=
ENST00000545707.5:c.1606+149_1606+150delinsGT ENSP00000437639.1:n.1606+149_1606+150delinsGT
ENST00000557933.5:c.2000_2001delinsGT ENSP00000453557.1:p.Cys667=
ENST00000558013.5:c.2000_2001delinsGT ENSP00000453346.1:p.Cys667=
ENST00000558518.5:c.2000_2001delinsGT ENSP00000454071.1:p.Cys667=
ENST00000559340.1:c.581_582delinsGT
NM_000527.4:c.2000_2001delinsGT , LRG_274t1:c.2000_2001delinsGT NP_000518.1:p.Cys667=
NM_001195798.1:c.2000_2001delinsGT NP_001182727.1:p.Cys667=
NM_001195799.1:c.1877_1878delinsGT NP_001182728.1:p.Cys626=
NM_001195800.1:c.1496_1497delinsGT NP_001182729.1:p.Cys499=
NM_001195803.1:c.1606+149_1606+150delinsGT NP_001182732.1:n.1606+149_1606+150delinsGT
XM_011528010.1:c.2000_2001delinsGT XP_011526312.1:p.Cys667=
XM_011528011.1:c.1619_1620delinsGT XP_011526313.1:p.Cys540=
XR_244074.2:n.2010_2011delinsGT
XM_011528010.2:c.2000_2001delinsGT XP_011526312.1:p.Cys667=
XR_001753685.2:n.2117_2118delinsGT
XR_001753686.2:n.1977_1978delinsGT
NM_000527.5:c.2000_2001delinsGT MANE Select NP_000518.1:p.Cys667=
NM_001195798.2:c.2000_2001delinsGT NP_001182727.1:p.Cys667=
NM_001195799.2:c.1877_1878delinsGT NP_001182728.1:p.Cys626=
NM_001195800.2:c.1496_1497delinsGT NP_001182729.1:p.Cys499=
NM_001195803.2:c.1606+149_1606+150delinsGT NP_001182732.1:n.1606+149_1606+150delinsGT