Canonical Allele Identifier: CA2322773603
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116796_11116799delinsCCCT , CM000681.2:g.11116796_11116799delinsCCCT GRCh38
NC_000019.9:g.11227472_11227475delinsCCCT , CM000681.1:g.11227472_11227475delinsCCCT GRCh37
NC_000019.8:g.11088472_11088475delinsCCCT NCBI36
NG_009060.1:g.32416_32419delinsCCCT , LRG_274:g.32416_32419delinsCCCT

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.1964-63_1964-60delinsCCCT ENSP00000252444.6:n.1964-63_1964-60delins...
ENST00000559340.2:c.1705+584_1705+587delinsCCCT ENSP00000453696.2:n.1705+584_1705+587deli...
ENST00000560467.2:c.1586-63_1586-60delinsCCCT ENSP00000453513.2:n.1586-63_1586-60delins...
ENST00000558518.6:c.1706-63_1706-60delinsCCCT MANE Select ENSP00000454071.1:n.1706-63_1706-60delins...
ENST00000252444.9:c.1960-63_1960-60delinsCCCT
ENST00000455727.6:c.1202-63_1202-60delinsCCCT ENSP00000397829.2:n.1202-63_1202-60delins...
ENST00000535915.5:c.1583-63_1583-60delinsCCCT ENSP00000440520.1:n.1583-63_1583-60delins...
ENST00000545707.5:c.1325-63_1325-60delinsCCCT ENSP00000437639.1:n.1325-63_1325-60delins...
ENST00000557933.5:c.1706-63_1706-60delinsCCCT ENSP00000453557.1:n.1706-63_1706-60delins...
ENST00000558013.5:c.1706-63_1706-60delinsCCCT ENSP00000453346.1:n.1706-63_1706-60delins...
ENST00000558518.5:c.1706-63_1706-60delinsCCCT ENSP00000454071.1:n.1706-63_1706-60delins...
ENST00000559340.1:c.426+584_426+587delinsCCCT
NM_000527.4:c.1706-63_1706-60delinsCCCT , LRG_274t1:c.1706-63_1706-60delinsCCCT NP_000518.1:n.1706-63_1706-60delinsCCCT
NM_001195798.1:c.1706-63_1706-60delinsCCCT NP_001182727.1:n.1706-63_1706-60delinsCCC...
NM_001195799.1:c.1583-63_1583-60delinsCCCT NP_001182728.1:n.1583-63_1583-60delinsCCC...
NM_001195800.1:c.1202-63_1202-60delinsCCCT NP_001182729.1:n.1202-63_1202-60delinsCCC...
NM_001195803.1:c.1325-63_1325-60delinsCCCT NP_001182732.1:n.1325-63_1325-60delinsCCC...
XM_011528010.1:c.1706-63_1706-60delinsCCCT XP_011526312.1:n.1706-63_1706-60delinsCCC...
XM_011528011.1:c.1325-63_1325-60delinsCCCT XP_011526313.1:n.1325-63_1325-60delinsCCC...
XR_244074.2:n.1855+584_1855+587delinsCCCT
XM_011528010.2:c.1706-63_1706-60delinsCCCT XP_011526312.1:n.1706-63_1706-60delinsCCC...
XR_001753685.2:n.1823-63_1823-60delinsCCCT
XR_001753686.2:n.1822+584_1822+587delinsCCCT
NM_000527.5:c.1706-63_1706-60delinsCCCT MANE Select NP_000518.1:n.1706-63_1706-60delinsCCCT
NM_001195798.2:c.1706-63_1706-60delinsCCCT NP_001182727.1:n.1706-63_1706-60delinsCCC...
NM_001195799.2:c.1583-63_1583-60delinsCCCT NP_001182728.1:n.1583-63_1583-60delinsCCC...
NM_001195800.2:c.1202-63_1202-60delinsCCCT NP_001182729.1:n.1202-63_1202-60delinsCCC...
NM_001195803.2:c.1325-63_1325-60delinsCCCT NP_001182732.1:n.1325-63_1325-60delinsCCC...