Canonical Allele Identifier: CA2580096472
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2044676
ClinVar RCV Id: RCV002903862
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105564_11105565delinsTGTGATGG , CM000681.2:g.11105564_11105565delinsTGTGATGG GRCh38
NC_000019.9:g.11216240_11216241delinsTGTGATGG , CM000681.1:g.11216240_11216241delinsTGTGATGG GRCh37
NC_000019.8:g.11077240_11077241delinsTGTGATGG NCBI36
NG_009060.1:g.21184_21185delinsTGTGATGG , LRG_274:g.21184_21185delinsTGTGATGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.916_917delinsTGTGATGG ENSP00000252444.6:p.Pro306delinsCysAspGly
ENST00000559340.2:c.658_659delinsTGTGATGG ENSP00000453696.2:p.Pro220delinsCysAspGly
ENST00000560467.2:c.658_659delinsTGTGATGG ENSP00000453513.2:p.Pro220delinsCysAspGly
ENST00000558518.6:c.658_659delinsTGTGATGG MANE Select ENSP00000454071.1:p.Pro220delinsCysAspGly
ENST00000252444.9:c.912_913delinsTGTGATGG
ENST00000455727.6:c.314-1828_314-1827delinsTGTGATGG ENSP00000397829.2:n.314-1828_314-1827delinsTGTGATGG
ENST00000535915.5:c.535_536delinsTGTGATGG ENSP00000440520.1:p.Pro179delinsCysAspGly
ENST00000545707.5:c.314-1001_314-1000delinsTGTGATGG ENSP00000437639.1:n.314-1001_314-1000delinsTGTGATGG
ENST00000557933.5:c.658_659delinsTGTGATGG ENSP00000453557.1:p.Pro220delinsCysAspGly
ENST00000558013.5:c.658_659delinsTGTGATGG ENSP00000453346.1:p.Pro220delinsCysAspGly
ENST00000558518.5:c.658_659delinsTGTGATGG ENSP00000454071.1:p.Pro220delinsCysAspGly
ENST00000560467.1:c.258_259delinsTGTGATGG
NM_000527.4:c.658_659delinsTGTGATGG , LRG_274t1:c.658_659delinsTGTGATGG NP_000518.1:p.Pro220delinsCysAspGly
NM_001195798.1:c.658_659delinsTGTGATGG NP_001182727.1:p.Pro220delinsCysAspGly
NM_001195799.1:c.535_536delinsTGTGATGG NP_001182728.1:p.Pro179delinsCysAspGly
NM_001195800.1:c.314-1828_314-1827delinsTGTGATGG NP_001182729.1:n.314-1828_314-1827delinsTGTGATGG
NM_001195803.1:c.314-1001_314-1000delinsTGTGATGG NP_001182732.1:n.314-1001_314-1000delinsTGTGATGG
XM_011528010.1:c.658_659delinsTGTGATGG XP_011526312.1:p.Pro220delinsCysAspGly
XM_011528011.1:c.314-1001_314-1000delinsTGTGATGG XP_011526313.1:n.314-1001_314-1000delinsTGTGATGG
XR_244074.2:n.808_809delinsTGTGATGG
XM_011528010.2:c.658_659delinsTGTGATGG XP_011526312.1:p.Pro220delinsCysAspGly
XR_001753685.2:n.775_776delinsTGTGATGG
XR_001753686.2:n.775_776delinsTGTGATGG
NM_000527.5:c.658_659delinsTGTGATGG MANE Select NP_000518.1:p.Pro220delinsCysAspGly
NM_001195798.2:c.658_659delinsTGTGATGG NP_001182727.1:p.Pro220delinsCysAspGly
NM_001195799.2:c.535_536delinsTGTGATGG NP_001182728.1:p.Pro179delinsCysAspGly
NM_001195800.2:c.314-1828_314-1827delinsTGTGATGG NP_001182729.1:n.314-1828_314-1827delinsTGTGATGG
NM_001195803.2:c.314-1001_314-1000delinsTGTGATGG NP_001182732.1:n.314-1001_314-1000delinsTGTGATGG
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