Canonical Allele Identifier: CA2322767576
Gene: LDLR HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105556_11105559delinsATGG , CM000681.2:g.11105556_11105559delinsATGG GRCh38
NC_000019.9:g.11216232_11216235delinsATGG , CM000681.1:g.11216232_11216235delinsATGG GRCh37
NC_000019.8:g.11077232_11077235delinsATGG NCBI36
NG_009060.1:g.21176_21179delinsATGG , LRG_274:g.21176_21179delinsATGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.908_911delinsATGG ENSP00000252444.6:p.Asp303=
ENST00000559340.2:c.650_653delinsATGG ENSP00000453696.2:p.Asp217=
ENST00000560467.2:c.650_653delinsATGG ENSP00000453513.2:p.Asp217=
ENST00000558518.6:c.650_653delinsATGG MANE Select ENSP00000454071.1:p.Asp217=
ENST00000252444.9:c.904_907delinsATGG
ENST00000455727.6:c.314-1836_314-1833delinsATGG ENSP00000397829.2:n.314-1836_314-1833delinsATGG
ENST00000535915.5:c.527_530delinsATGG ENSP00000440520.1:p.Asp176=
ENST00000545707.5:c.314-1009_314-1006delinsATGG ENSP00000437639.1:n.314-1009_314-1006delinsATGG
ENST00000557933.5:c.650_653delinsATGG ENSP00000453557.1:p.Asp217=
ENST00000558013.5:c.650_653delinsATGG ENSP00000453346.1:p.Asp217=
ENST00000558518.5:c.650_653delinsATGG ENSP00000454071.1:p.Asp217=
ENST00000560467.1:c.250_253delinsATGG
NM_000527.4:c.650_653delinsATGG , LRG_274t1:c.650_653delinsATGG NP_000518.1:p.Asp217=
NM_001195798.1:c.650_653delinsATGG NP_001182727.1:p.Asp217=
NM_001195799.1:c.527_530delinsATGG NP_001182728.1:p.Asp176=
NM_001195800.1:c.314-1836_314-1833delinsATGG NP_001182729.1:n.314-1836_314-1833delinsATGG
NM_001195803.1:c.314-1009_314-1006delinsATGG NP_001182732.1:n.314-1009_314-1006delinsATGG
XM_011528010.1:c.650_653delinsATGG XP_011526312.1:p.Asp217=
XM_011528011.1:c.314-1009_314-1006delinsATGG XP_011526313.1:n.314-1009_314-1006delinsATGG
XR_244074.2:n.800_803delinsATGG
XM_011528010.2:c.650_653delinsATGG XP_011526312.1:p.Asp217=
XR_001753685.2:n.767_770delinsATGG
XR_001753686.2:n.767_770delinsATGG
NM_000527.5:c.650_653delinsATGG MANE Select NP_000518.1:p.Asp217=
NM_001195798.2:c.650_653delinsATGG NP_001182727.1:p.Asp217=
NM_001195799.2:c.527_530delinsATGG NP_001182728.1:p.Asp176=
NM_001195800.2:c.314-1836_314-1833delinsATGG NP_001182729.1:n.314-1836_314-1833delinsATGG
NM_001195803.2:c.314-1009_314-1006delinsATGG NP_001182732.1:n.314-1009_314-1006delinsATGG
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