Canonical Allele Identifier: CA2322773255
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116122_11116125delinsCCCG , CM000681.2:g.11116122_11116125delinsCCCG GRCh38
NC_000019.9:g.11226798_11226801delinsCCCG , CM000681.1:g.11226798_11226801delinsCCCG GRCh37
NC_000019.8:g.11087798_11087801delinsCCCG NCBI36
NG_009060.1:g.31742_31745delinsCCCG , LRG_274:g.31742_31745delinsCCCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1873_1876delinsCCCG ENSP00000252444.6:p.Pro625=
ENST00000559340.2:c.1615_1618delinsCCCG ENSP00000453696.2:p.Pro539=
ENST00000560467.2:c.1495_1498delinsCCCG ENSP00000453513.2:p.Pro499=
ENST00000558518.6:c.1615_1618delinsCCCG MANE Select ENSP00000454071.1:p.Pro539=
ENST00000252444.9:c.1869_1872delinsCCCG
ENST00000455727.6:c.1111_1114delinsCCCG ENSP00000397829.2:p.Pro371=
ENST00000535915.5:c.1492_1495delinsCCCG ENSP00000440520.1:p.Pro498=
ENST00000545707.5:c.1234_1237delinsCCCG ENSP00000437639.1:p.Pro412=
ENST00000557933.5:c.1615_1618delinsCCCG ENSP00000453557.1:p.Pro539=
ENST00000558013.5:c.1615_1618delinsCCCG ENSP00000453346.1:p.Pro539=
ENST00000558518.5:c.1615_1618delinsCCCG ENSP00000454071.1:p.Pro539=
ENST00000559340.1:c.336_339delinsCCCG
NM_000527.4:c.1615_1618delinsCCCG , LRG_274t1:c.1615_1618delinsCCCG NP_000518.1:p.Pro539=
NM_001195798.1:c.1615_1618delinsCCCG NP_001182727.1:p.Pro539=
NM_001195799.1:c.1492_1495delinsCCCG NP_001182728.1:p.Pro498=
NM_001195800.1:c.1111_1114delinsCCCG NP_001182729.1:p.Pro371=
NM_001195803.1:c.1234_1237delinsCCCG NP_001182732.1:p.Pro412=
XM_011528010.1:c.1615_1618delinsCCCG XP_011526312.1:p.Pro539=
XM_011528011.1:c.1234_1237delinsCCCG XP_011526313.1:p.Pro412=
XR_244074.2:n.1765_1768delinsCCCG
XM_011528010.2:c.1615_1618delinsCCCG XP_011526312.1:p.Pro539=
XR_001753685.2:n.1732_1735delinsCCCG
XR_001753686.2:n.1732_1735delinsCCCG
NM_000527.5:c.1615_1618delinsCCCG MANE Select NP_000518.1:p.Pro539=
NM_001195798.2:c.1615_1618delinsCCCG NP_001182727.1:p.Pro539=
NM_001195799.2:c.1492_1495delinsCCCG NP_001182728.1:p.Pro498=
NM_001195800.2:c.1111_1114delinsCCCG NP_001182729.1:p.Pro371=
NM_001195803.2:c.1234_1237delinsCCCG NP_001182732.1:p.Pro412=