Canonical Allele Identifier: CA2322773710
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116935_11116942delinsCCGGAAGA , CM000681.2:g.11116935_11116942delinsCCGGAAGA GRCh38
NC_000019.9:g.11227611_11227618delinsCCGGAAGA , CM000681.1:g.11227611_11227618delinsCCGGAAGA GRCh37
NC_000019.8:g.11088611_11088618delinsCCGGAAGA NCBI36
NG_009060.1:g.32555_32562delinsCCGGAAGA , LRG_274:g.32555_32562delinsCCGGAAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2040_2047delinsCCGGAAGA ENSP00000252444.6:p.Asn680=
ENST00000559340.2:c.1705+723_1705+730delinsCCGGAAGA ENSP00000453696.2:n.1705+723_1705+730delinsCCGGAAGA
ENST00000560467.2:c.1662_1669delinsCCGGAAGA ENSP00000453513.2:p.Asn554=
ENST00000558518.6:c.1782_1789delinsCCGGAAGA MANE Select ENSP00000454071.1:p.Asn594=
ENST00000252444.9:c.2036_2043delinsCCGGAAGA
ENST00000455727.6:c.1278_1285delinsCCGGAAGA ENSP00000397829.2:p.Asn426=
ENST00000535915.5:c.1659_1666delinsCCGGAAGA ENSP00000440520.1:p.Asn553=
ENST00000545707.5:c.1401_1408delinsCCGGAAGA ENSP00000437639.1:p.Asn467=
ENST00000557933.5:c.1782_1789delinsCCGGAAGA ENSP00000453557.1:p.Asn594=
ENST00000558013.5:c.1782_1789delinsCCGGAAGA ENSP00000453346.1:p.Asn594=
ENST00000558518.5:c.1782_1789delinsCCGGAAGA ENSP00000454071.1:p.Asn594=
ENST00000559340.1:c.426+723_426+730delinsCCGGAAGA
NM_000527.4:c.1782_1789delinsCCGGAAGA , LRG_274t1:c.1782_1789delinsCCGGAAGA NP_000518.1:p.Asn594=
NM_001195798.1:c.1782_1789delinsCCGGAAGA NP_001182727.1:p.Asn594=
NM_001195799.1:c.1659_1666delinsCCGGAAGA NP_001182728.1:p.Asn553=
NM_001195800.1:c.1278_1285delinsCCGGAAGA NP_001182729.1:p.Asn426=
NM_001195803.1:c.1401_1408delinsCCGGAAGA NP_001182732.1:p.Asn467=
XM_011528010.1:c.1782_1789delinsCCGGAAGA XP_011526312.1:p.Asn594=
XM_011528011.1:c.1401_1408delinsCCGGAAGA XP_011526313.1:p.Asn467=
XR_244074.2:n.1855+723_1855+730delinsCCGGAAGA
XM_011528010.2:c.1782_1789delinsCCGGAAGA XP_011526312.1:p.Asn594=
XR_001753685.2:n.1899_1906delinsCCGGAAGA
XR_001753686.2:n.1822+723_1822+730delinsCCGGAAGA
NM_000527.5:c.1782_1789delinsCCGGAAGA MANE Select NP_000518.1:p.Asn594=
NM_001195798.2:c.1782_1789delinsCCGGAAGA NP_001182727.1:p.Asn594=
NM_001195799.2:c.1659_1666delinsCCGGAAGA NP_001182728.1:p.Asn553=
NM_001195800.2:c.1278_1285delinsCCGGAAGA NP_001182729.1:p.Asn426=
NM_001195803.2:c.1401_1408delinsCCGGAAGA NP_001182732.1:p.Asn467=