Canonical Allele Identifier: CA2322768696
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11107545_11107547delinsTTG , CM000681.2:g.11107545_11107547delinsTTG GRCh38
NC_000019.9:g.11218221_11218223delinsTTG , CM000681.1:g.11218221_11218223delinsTTG GRCh37
NC_000019.8:g.11079221_11079223delinsTTG NCBI36
NG_009060.1:g.23165_23167delinsTTG , LRG_274:g.23165_23167delinsTTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1198+31_1198+33delinsTTG ENSP00000252444.6:n.1198+31_1198+33delinsTTG
ENST00000559340.2:c.940+31_940+33delinsTTG ENSP00000453696.2:n.940+31_940+33delinsTTG
ENST00000560467.2:c.940+31_940+33delinsTTG ENSP00000453513.2:n.940+31_940+33delinsTTG
ENST00000558518.6:c.940+31_940+33delinsTTG MANE Select ENSP00000454071.1:n.940+31_940+33delinsTTG
ENST00000252444.9:c.1194+31_1194+33delinsTTG
ENST00000455727.6:c.436+31_436+33delinsTTG ENSP00000397829.2:n.436+31_436+33delinsTTG
ENST00000535915.5:c.817+31_817+33delinsTTG ENSP00000440520.1:n.817+31_817+33delinsTTG
ENST00000545707.5:c.559+31_559+33delinsTTG ENSP00000437639.1:n.559+31_559+33delinsTTG
ENST00000557933.5:c.940+31_940+33delinsTTG ENSP00000453557.1:n.940+31_940+33delinsTTG
ENST00000558013.5:c.940+31_940+33delinsTTG ENSP00000453346.1:n.940+31_940+33delinsTTG
ENST00000558518.5:c.940+31_940+33delinsTTG ENSP00000454071.1:n.940+31_940+33delinsTTG
ENST00000560467.1:c.540+31_540+33delinsTTG
NM_000527.4:c.940+31_940+33delinsTTG , LRG_274t1:c.940+31_940+33delinsTTG NP_000518.1:n.940+31_940+33delinsTTG
NM_001195798.1:c.940+31_940+33delinsTTG NP_001182727.1:n.940+31_940+33delinsTTG
NM_001195799.1:c.817+31_817+33delinsTTG NP_001182728.1:n.817+31_817+33delinsTTG
NM_001195800.1:c.436+31_436+33delinsTTG NP_001182729.1:n.436+31_436+33delinsTTG
NM_001195803.1:c.559+31_559+33delinsTTG NP_001182732.1:n.559+31_559+33delinsTTG
XM_011528010.1:c.940+31_940+33delinsTTG XP_011526312.1:n.940+31_940+33delinsTTG
XM_011528011.1:c.559+31_559+33delinsTTG XP_011526313.1:n.559+31_559+33delinsTTG
XR_244074.2:n.1090+31_1090+33delinsTTG
XM_011528010.2:c.940+31_940+33delinsTTG XP_011526312.1:n.940+31_940+33delinsTTG
XR_001753685.2:n.1057+31_1057+33delinsTTG
XR_001753686.2:n.1057+31_1057+33delinsTTG
NM_000527.5:c.940+31_940+33delinsTTG MANE Select NP_000518.1:n.940+31_940+33delinsTTG
NM_001195798.2:c.940+31_940+33delinsTTG NP_001182727.1:n.940+31_940+33delinsTTG
NM_001195799.2:c.817+31_817+33delinsTTG NP_001182728.1:n.817+31_817+33delinsTTG
NM_001195800.2:c.436+31_436+33delinsTTG NP_001182729.1:n.436+31_436+33delinsTTG
NM_001195803.2:c.559+31_559+33delinsTTG NP_001182732.1:n.559+31_559+33delinsTTG