Canonical Allele Identifier: CA2322773600
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116787_11116788delinsGT , CM000681.2:g.11116787_11116788delinsGT GRCh38
NC_000019.9:g.11227463_11227464delinsGT , CM000681.1:g.11227463_11227464delinsGT GRCh37
NC_000019.8:g.11088463_11088464delinsGT NCBI36
NG_009060.1:g.32407_32408delinsGT , LRG_274:g.32407_32408delinsGT

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.1964-72_1964-71delinsGT ENSP00000252444.6:n.1964-72_1964-71delins...
ENST00000559340.2:c.1705+575_1705+576delinsGT ENSP00000453696.2:n.1705+575_1705+576deli...
ENST00000560467.2:c.1586-72_1586-71delinsGT ENSP00000453513.2:n.1586-72_1586-71delins...
ENST00000558518.6:c.1706-72_1706-71delinsGT MANE Select ENSP00000454071.1:n.1706-72_1706-71delins...
ENST00000252444.9:c.1960-72_1960-71delinsGT
ENST00000455727.6:c.1202-72_1202-71delinsGT ENSP00000397829.2:n.1202-72_1202-71delins...
ENST00000535915.5:c.1583-72_1583-71delinsGT ENSP00000440520.1:n.1583-72_1583-71delins...
ENST00000545707.5:c.1325-72_1325-71delinsGT ENSP00000437639.1:n.1325-72_1325-71delins...
ENST00000557933.5:c.1706-72_1706-71delinsGT ENSP00000453557.1:n.1706-72_1706-71delins...
ENST00000558013.5:c.1706-72_1706-71delinsGT ENSP00000453346.1:n.1706-72_1706-71delins...
ENST00000558518.5:c.1706-72_1706-71delinsGT ENSP00000454071.1:n.1706-72_1706-71delins...
ENST00000559340.1:c.426+575_426+576delinsGT
NM_000527.4:c.1706-72_1706-71delinsGT , LRG_274t1:c.1706-72_1706-71delinsGT NP_000518.1:n.1706-72_1706-71delinsGT
NM_001195798.1:c.1706-72_1706-71delinsGT NP_001182727.1:n.1706-72_1706-71delinsGT
NM_001195799.1:c.1583-72_1583-71delinsGT NP_001182728.1:n.1583-72_1583-71delinsGT
NM_001195800.1:c.1202-72_1202-71delinsGT NP_001182729.1:n.1202-72_1202-71delinsGT
NM_001195803.1:c.1325-72_1325-71delinsGT NP_001182732.1:n.1325-72_1325-71delinsGT
XM_011528010.1:c.1706-72_1706-71delinsGT XP_011526312.1:n.1706-72_1706-71delinsGT
XM_011528011.1:c.1325-72_1325-71delinsGT XP_011526313.1:n.1325-72_1325-71delinsGT
XR_244074.2:n.1855+575_1855+576delinsGT
XM_011528010.2:c.1706-72_1706-71delinsGT XP_011526312.1:n.1706-72_1706-71delinsGT
XR_001753685.2:n.1823-72_1823-71delinsGT
XR_001753686.2:n.1822+575_1822+576delinsGT
NM_000527.5:c.1706-72_1706-71delinsGT MANE Select NP_000518.1:n.1706-72_1706-71delinsGT
NM_001195798.2:c.1706-72_1706-71delinsGT NP_001182727.1:n.1706-72_1706-71delinsGT
NM_001195799.2:c.1583-72_1583-71delinsGT NP_001182728.1:n.1583-72_1583-71delinsGT
NM_001195800.2:c.1202-72_1202-71delinsGT NP_001182729.1:n.1202-72_1202-71delinsGT
NM_001195803.2:c.1325-72_1325-71delinsGT NP_001182732.1:n.1325-72_1325-71delinsGT