Canonical Allele Identifier: CA2497030090
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116932_11116933insG , CM000681.2:g.11116932_11116933insG GRCh38
NC_000019.9:g.11227608_11227609insG , CM000681.1:g.11227608_11227609insG GRCh37
NC_000019.8:g.11088608_11088609insG NCBI36
NG_009060.1:g.32552_32553insG , LRG_274:g.32552_32553insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2037_2038insG ENSP00000252444.6:p.Asn680GlufsTer9
ENST00000559340.2:c.1705+720_1705+721insG ENSP00000453696.2:n.1705+720_1705+721insG
ENST00000560467.2:c.1659_1660insG ENSP00000453513.2:p.Asn554GlufsTer9
ENST00000558518.6:c.1779_1780insG MANE Select ENSP00000454071.1:p.Asn594GlufsTer9
ENST00000252444.9:c.2033_2034insG
ENST00000455727.6:c.1275_1276insG ENSP00000397829.2:p.Asn426GlufsTer9
ENST00000535915.5:c.1656_1657insG ENSP00000440520.1:p.Asn553GlufsTer9
ENST00000545707.5:c.1398_1399insG ENSP00000437639.1:p.Asn467GlufsTer9
ENST00000557933.5:c.1779_1780insG ENSP00000453557.1:p.Asn594GlufsTer9
ENST00000558013.5:c.1779_1780insG ENSP00000453346.1:p.Asn594GlufsTer9
ENST00000558518.5:c.1779_1780insG ENSP00000454071.1:p.Asn594GlufsTer9
ENST00000559340.1:c.426+720_426+721insG
NM_000527.4:c.1779_1780insG , LRG_274t1:c.1779_1780insG NP_000518.1:p.Asn594GlufsTer9
NM_001195798.1:c.1779_1780insG NP_001182727.1:p.Asn594GlufsTer9
NM_001195799.1:c.1656_1657insG NP_001182728.1:p.Asn553GlufsTer9
NM_001195800.1:c.1275_1276insG NP_001182729.1:p.Asn426GlufsTer9
NM_001195803.1:c.1398_1399insG NP_001182732.1:p.Asn467GlufsTer9
XM_011528010.1:c.1779_1780insG XP_011526312.1:p.Asn594GlufsTer9
XM_011528011.1:c.1398_1399insG XP_011526313.1:p.Asn467GlufsTer9
XR_244074.2:n.1855+720_1855+721insG
XM_011528010.2:c.1779_1780insG XP_011526312.1:p.Asn594GlufsTer9
XR_001753685.2:n.1896_1897insG
XR_001753686.2:n.1822+720_1822+721insG
NM_000527.5:c.1779_1780insG MANE Select NP_000518.1:p.Asn594GlufsTer9
NM_001195798.2:c.1779_1780insG NP_001182727.1:p.Asn594GlufsTer9
NM_001195799.2:c.1656_1657insG NP_001182728.1:p.Asn553GlufsTer9
NM_001195800.2:c.1275_1276insG NP_001182729.1:p.Asn426GlufsTer9
NM_001195803.2:c.1398_1399insG NP_001182732.1:p.Asn467GlufsTer9