Canonical Allele Identifier: CA645373252
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 430749
ClinVar RCV Id: RCV000495885
dbSNP Id: rs1131692191

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11102724_11102725insCATTCTG , CM000681.2:g.11102724_11102725insCATTCTG GRCh38
NC_000019.9:g.11213400_11213401insCATTCTG , CM000681.1:g.11213400_11213401insCATTCTG GRCh37
NC_000019.8:g.11074400_11074401insCATTCTG NCBI36
NG_009060.1:g.18344_18345insCATTCTG , LRG_274:g.18344_18345insCATTCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.509_510insCATTCTG ENSP00000252444.6:p.Gln171IlefsTer?
ENST00000559340.2:c.251_252insCATTCTG ENSP00000453696.2:p.Gln85IlefsTer?
ENST00000560467.2:c.251_252insCATTCTG ENSP00000453513.2:p.Gln85IlefsTer?
ENST00000558518.6:c.251_252insCATTCTG MANE Select ENSP00000454071.1:p.Gln85IlefsTer?
ENST00000252444.9:c.505_506insCATTCTG
ENST00000455727.6:c.251_252insCATTCTG ENSP00000397829.2:p.Gln85IlefsTer?
ENST00000535915.5:c.190+2379_190+2380insCATTCTG ENSP00000440520.1:n.190+2379_190+2380insCATTCTG
ENST00000545707.5:c.251_252insCATTCTG ENSP00000437639.1:p.Gln85IlefsTer30
ENST00000557933.5:c.251_252insCATTCTG ENSP00000453557.1:p.Gln85IlefsTer?
ENST00000557958.1:n.337_338insCATTCTG
ENST00000558013.5:c.251_252insCATTCTG ENSP00000453346.1:p.Gln85IlefsTer?
ENST00000558518.5:c.251_252insCATTCTG ENSP00000454071.1:p.Gln85IlefsTer?
NM_000527.4:c.251_252insCATTCTG , LRG_274t1:c.251_252insCATTCTG NP_000518.1:p.Gln85IlefsTer?
NM_001195798.1:c.251_252insCATTCTG NP_001182727.1:p.Gln85IlefsTer?
NM_001195799.1:c.190+2379_190+2380insCATTCTG NP_001182728.1:n.190+2379_190+2380insCATTCTG
NM_001195800.1:c.251_252insCATTCTG NP_001182729.1:p.Gln85IlefsTer?
NM_001195803.1:c.251_252insCATTCTG NP_001182732.1:p.Gln85IlefsTer30
XM_011528010.1:c.251_252insCATTCTG XP_011526312.1:p.Gln85IlefsTer?
XM_011528011.1:c.251_252insCATTCTG XP_011526313.1:p.Gln85IlefsTer30
XR_244074.2:n.401_402insCATTCTG
XM_011528010.2:c.251_252insCATTCTG XP_011526312.1:p.Gln85IlefsTer?
XR_001753685.2:n.368_369insCATTCTG
XR_001753686.2:n.368_369insCATTCTG
NM_000527.5:c.251_252insCATTCTG MANE Select NP_000518.1:p.Gln85IlefsTer?
NM_001195798.2:c.251_252insCATTCTG NP_001182727.1:p.Gln85IlefsTer?
NM_001195799.2:c.190+2379_190+2380insCATTCTG NP_001182728.1:n.190+2379_190+2380insCATTCTG
NM_001195800.2:c.251_252insCATTCTG NP_001182729.1:p.Gln85IlefsTer?
NM_001195803.2:c.251_252insCATTCTG NP_001182732.1:p.Gln85IlefsTer30