Canonical Allele Identifier: CA2497030100
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120438_11120439insT , CM000681.2:g.11120438_11120439insT GRCh38
NC_000019.9:g.11231114_11231115insT , CM000681.1:g.11231114_11231115insT GRCh37
NC_000019.8:g.11092114_11092115insT NCBI36
NG_009060.1:g.36058_36059insT , LRG_274:g.36058_36059insT

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.2314_2315insT ENSP00000252444.6:p.Gln772LeufsTer?
ENST00000559340.2:c.*125_*126insT ENSP00000453696.2:n.*125_*126insT
ENST00000560467.2:c.1936_1937insT ENSP00000453513.2:p.Gln646LeufsTer?
ENST00000558518.6:c.2056_2057insT MANE Select ENSP00000454071.1:p.Gln686LeufsTer?
ENST00000252444.9:c.2310_2311insT
ENST00000455727.6:c.1552_1553insT ENSP00000397829.2:p.Gln518LeufsTer?
ENST00000535915.5:c.1933_1934insT ENSP00000440520.1:p.Gln645LeufsTer?
ENST00000545707.5:c.1606+205_1606+206insT ENSP00000437639.1:n.1606+205_1606+206insT...
ENST00000557933.5:c.2056_2057insT ENSP00000453557.1:p.Gln686LeufsTer?
ENST00000558013.5:c.2056_2057insT ENSP00000453346.1:p.Gln686LeufsTer?
ENST00000558518.5:c.2056_2057insT ENSP00000454071.1:p.Gln686LeufsTer?
NM_000527.4:c.2056_2057insT , LRG_274t1:c.2056_2057insT NP_000518.1:p.Gln686LeufsTer?
NM_001195798.1:c.2056_2057insT NP_001182727.1:p.Gln686LeufsTer?
NM_001195799.1:c.1933_1934insT NP_001182728.1:p.Gln645LeufsTer?
NM_001195800.1:c.1552_1553insT NP_001182729.1:p.Gln518LeufsTer?
NM_001195803.1:c.1606+205_1606+206insT NP_001182732.1:n.1606+205_1606+206insT
XM_011528010.1:c.2056_2057insT XP_011526312.1:p.Gln686LeufsTer?
XM_011528011.1:c.1675_1676insT XP_011526313.1:p.Gln559LeufsTer?
XR_244074.2:n.2066_2067insT
XM_011528010.2:c.2056_2057insT XP_011526312.1:p.Gln686LeufsTer?
XR_001753685.2:n.2173_2174insT
XR_001753686.2:n.2033_2034insT
NM_000527.5:c.2056_2057insT MANE Select NP_000518.1:p.Gln686LeufsTer?
NM_001195798.2:c.2056_2057insT NP_001182727.1:p.Gln686LeufsTer?
NM_001195799.2:c.1933_1934insT NP_001182728.1:p.Gln645LeufsTer?
NM_001195800.2:c.1552_1553insT NP_001182729.1:p.Gln518LeufsTer?
NM_001195803.2:c.1606+205_1606+206insT NP_001182732.1:n.1606+205_1606+206insT