Canonical Allele Identifier: CA2322774164
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11117824_11117825delinsGA , CM000681.2:g.11117824_11117825delinsGA GRCh38
NC_000019.9:g.11228500_11228501delinsGA , CM000681.1:g.11228500_11228501delinsGA GRCh37
NC_000019.8:g.11089500_11089501delinsGA NCBI36
NG_009060.1:g.33444_33445delinsGA , LRG_274:g.33444_33445delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2103+826_2103+827delinsGA ENSP00000252444.6:n.2103+826_2103+827delinsGA
ENST00000559340.2:c.1705+1612_1705+1613delinsGA ENSP00000453696.2:n.1705+1612_1705+1613delinsGA
ENST00000560467.2:c.1725+826_1725+827delinsGA ENSP00000453513.2:n.1725+826_1725+827delinsGA
ENST00000558518.6:c.1845+826_1845+827delinsGA MANE Select ENSP00000454071.1:n.1845+826_1845+827delinsGA
ENST00000252444.9:c.2099+826_2099+827delinsGA
ENST00000455727.6:c.1341+826_1341+827delinsGA ENSP00000397829.2:n.1341+826_1341+827delinsGA
ENST00000535915.5:c.1722+826_1722+827delinsGA ENSP00000440520.1:n.1722+826_1722+827delinsGA
ENST00000545707.5:c.1464+826_1464+827delinsGA ENSP00000437639.1:n.1464+826_1464+827delinsGA
ENST00000557933.5:c.1845+826_1845+827delinsGA ENSP00000453557.1:n.1845+826_1845+827delinsGA
ENST00000558013.5:c.1845+826_1845+827delinsGA ENSP00000453346.1:n.1845+826_1845+827delinsGA
ENST00000558518.5:c.1845+826_1845+827delinsGA ENSP00000454071.1:n.1845+826_1845+827delinsGA
ENST00000559340.1:c.426+1612_426+1613delinsGA
NM_000527.4:c.1845+826_1845+827delinsGA , LRG_274t1:c.1845+826_1845+827delinsGA NP_000518.1:n.1845+826_1845+827delinsGA
NM_001195798.1:c.1845+826_1845+827delinsGA NP_001182727.1:n.1845+826_1845+827delinsGA
NM_001195799.1:c.1722+826_1722+827delinsGA NP_001182728.1:n.1722+826_1722+827delinsGA
NM_001195800.1:c.1341+826_1341+827delinsGA NP_001182729.1:n.1341+826_1341+827delinsGA
NM_001195803.1:c.1464+826_1464+827delinsGA NP_001182732.1:n.1464+826_1464+827delinsGA
XM_011528010.1:c.1845+826_1845+827delinsGA XP_011526312.1:n.1845+826_1845+827delinsGA
XM_011528011.1:c.1464+826_1464+827delinsGA XP_011526313.1:n.1464+826_1464+827delinsGA
XR_244074.2:n.1855+1612_1855+1613delinsGA
XM_011528010.2:c.1845+826_1845+827delinsGA XP_011526312.1:n.1845+826_1845+827delinsGA
XR_001753685.2:n.1962+826_1962+827delinsGA
XR_001753686.2:n.1822+1612_1822+1613delinsGA
NM_000527.5:c.1845+826_1845+827delinsGA MANE Select NP_000518.1:n.1845+826_1845+827delinsGA
NM_001195798.2:c.1845+826_1845+827delinsGA NP_001182727.1:n.1845+826_1845+827delinsGA
NM_001195799.2:c.1722+826_1722+827delinsGA NP_001182728.1:n.1722+826_1722+827delinsGA
NM_001195800.2:c.1341+826_1341+827delinsGA NP_001182729.1:n.1341+826_1341+827delinsGA
NM_001195803.2:c.1464+826_1464+827delinsGA NP_001182732.1:n.1464+826_1464+827delinsGA