Canonical Allele Identifier: CA1139768678
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1341567
ClinVar RCV Id: RCV001837063
dbSNP Id: rs2147265360
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120211_11120212delinsG , CM000681.2:g.11120211_11120212delinsG GRCh38
NC_000019.9:g.11230887_11230888delinsG , CM000681.1:g.11230887_11230888delinsG GRCh37
NC_000019.8:g.11091887_11091888delinsG NCBI36
NG_009060.1:g.35831_35832delinsG , LRG_274:g.35831_35832delinsG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2223_2224delinsG ENSP00000252444.6:p.Phe741LeufsTer10
ENST00000559340.2:c.*34_*35delinsG ENSP00000453696.2:n.*34_*35delinsG
ENST00000560467.2:c.1845_1846delinsG ENSP00000453513.2:p.Phe615LeufsTer10
ENST00000558518.6:c.1965_1966delinsG MANE Select ENSP00000454071.1:p.Phe655LeufsTer10
ENST00000252444.9:c.2219_2220delinsG
ENST00000455727.6:c.1461_1462delinsG ENSP00000397829.2:p.Phe487LeufsTer10
ENST00000535915.5:c.1842_1843delinsG ENSP00000440520.1:p.Phe614LeufsTer10
ENST00000545707.5:c.1584_1585delinsG ENSP00000437639.1:p.Phe528LeufsTer24
ENST00000557933.5:c.1965_1966delinsG ENSP00000453557.1:p.Phe655LeufsTer10
ENST00000558013.5:c.1965_1966delinsG ENSP00000453346.1:p.Phe655LeufsTer10
ENST00000558518.5:c.1965_1966delinsG ENSP00000454071.1:p.Phe655LeufsTer10
ENST00000559340.1:c.546_547delinsG
NM_000527.4:c.1965_1966delinsG , LRG_274t1:c.1965_1966delinsG NP_000518.1:p.Phe655LeufsTer10
NM_001195798.1:c.1965_1966delinsG NP_001182727.1:p.Phe655LeufsTer10
NM_001195799.1:c.1842_1843delinsG NP_001182728.1:p.Phe614LeufsTer10
NM_001195800.1:c.1461_1462delinsG NP_001182729.1:p.Phe487LeufsTer10
NM_001195803.1:c.1584_1585delinsG NP_001182732.1:p.Phe528LeufsTer24
XM_011528010.1:c.1965_1966delinsG XP_011526312.1:p.Phe655LeufsTer10
XM_011528011.1:c.1584_1585delinsG XP_011526313.1:p.Phe528LeufsTer10
XR_244074.2:n.1975_1976delinsG
XM_011528010.2:c.1965_1966delinsG XP_011526312.1:p.Phe655LeufsTer10
XR_001753685.2:n.2082_2083delinsG
XR_001753686.2:n.1942_1943delinsG
NM_000527.5:c.1965_1966delinsG MANE Select NP_000518.1:p.Phe655LeufsTer10
NM_001195798.2:c.1965_1966delinsG NP_001182727.1:p.Phe655LeufsTer10
NM_001195799.2:c.1842_1843delinsG NP_001182728.1:p.Phe614LeufsTer10
NM_001195800.2:c.1461_1462delinsG NP_001182729.1:p.Phe487LeufsTer10
NM_001195803.2:c.1584_1585delinsG NP_001182732.1:p.Phe528LeufsTer24
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