Canonical Allele Identifier: CA10584791
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251074
dbSNP Id: rs879254435

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11102668_11102669insAT , CM000681.2:g.11102668_11102669insAT GRCh38
NC_000019.9:g.11213344_11213345insAT , CM000681.1:g.11213344_11213345insAT GRCh37
NC_000019.8:g.11074344_11074345insAT NCBI36
NG_009060.1:g.18288_18289insAT , LRG_274:g.18288_18289insAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.453_454insAT ENSP00000252444.6:p.Val152MetfsTer?
ENST00000559340.2:c.195_196insAT ENSP00000453696.2:p.Val66MetfsTer?
ENST00000560467.2:c.195_196insAT ENSP00000453513.2:p.Val66MetfsTer?
ENST00000558518.6:c.195_196insAT MANE Select ENSP00000454071.1:p.Val66MetfsTer?
ENST00000252444.9:c.449_450insAT
ENST00000455727.6:c.195_196insAT ENSP00000397829.2:p.Val66MetfsTer?
ENST00000535915.5:c.190+2323_190+2324insAT ENSP00000440520.1:n.190+2323_190+2324insAT
ENST00000545707.5:c.195_196insAT ENSP00000437639.1:p.Val66MetfsTer?
ENST00000557933.5:c.195_196insAT ENSP00000453557.1:p.Val66MetfsTer?
ENST00000557958.1:n.281_282insAT
ENST00000558013.5:c.195_196insAT ENSP00000453346.1:p.Val66MetfsTer?
ENST00000558518.5:c.195_196insAT ENSP00000454071.1:p.Val66MetfsTer?
NM_000527.4:c.195_196insAT , LRG_274t1:c.195_196insAT NP_000518.1:p.Val66MetfsTer?
NM_001195798.1:c.195_196insAT NP_001182727.1:p.Val66MetfsTer?
NM_001195799.1:c.190+2323_190+2324insAT NP_001182728.1:n.190+2323_190+2324insAT
NM_001195800.1:c.195_196insAT NP_001182729.1:p.Val66MetfsTer?
NM_001195803.1:c.195_196insAT NP_001182732.1:p.Val66MetfsTer?
XM_011528010.1:c.195_196insAT XP_011526312.1:p.Val66MetfsTer?
XM_011528011.1:c.195_196insAT XP_011526313.1:p.Val66MetfsTer?
XR_244074.2:n.345_346insAT
XM_011528010.2:c.195_196insAT XP_011526312.1:p.Val66MetfsTer?
XR_001753685.2:n.312_313insAT
XR_001753686.2:n.312_313insAT
NM_000527.5:c.195_196insAT MANE Select NP_000518.1:p.Val66MetfsTer?
NM_001195798.2:c.195_196insAT NP_001182727.1:p.Val66MetfsTer?
NM_001195799.2:c.190+2323_190+2324insAT NP_001182728.1:n.190+2323_190+2324insAT
NM_001195800.2:c.195_196insAT NP_001182729.1:p.Val66MetfsTer?
NM_001195803.2:c.195_196insAT NP_001182732.1:p.Val66MetfsTer?