Canonical Allele Identifier: CA10584790
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251073
ClinVar RCV Id: RCV000237852
dbSNP Id: rs1555802710

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11102668_11102669insA , CM000681.2:g.11102668_11102669insA GRCh38
NC_000019.9:g.11213344_11213345insA , CM000681.1:g.11213344_11213345insA GRCh37
NC_000019.8:g.11074344_11074345insA NCBI36
NG_009060.1:g.18288_18289insA , LRG_274:g.18288_18289insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.453_454insA ENSP00000252444.6:p.Val152SerfsTer?
ENST00000559340.2:c.195_196insA ENSP00000453696.2:p.Val66SerfsTer?
ENST00000560467.2:c.195_196insA ENSP00000453513.2:p.Val66SerfsTer?
ENST00000558518.6:c.195_196insA MANE Select ENSP00000454071.1:p.Val66SerfsTer?
ENST00000252444.9:c.449_450insA
ENST00000455727.6:c.195_196insA ENSP00000397829.2:p.Val66SerfsTer?
ENST00000535915.5:c.190+2323_190+2324insA ENSP00000440520.1:n.190+2323_190+2324insA
ENST00000545707.5:c.195_196insA ENSP00000437639.1:p.Val66SerfsTer?
ENST00000557933.5:c.195_196insA ENSP00000453557.1:p.Val66SerfsTer?
ENST00000557958.1:n.281_282insA
ENST00000558013.5:c.195_196insA ENSP00000453346.1:p.Val66SerfsTer?
ENST00000558518.5:c.195_196insA ENSP00000454071.1:p.Val66SerfsTer?
NM_000527.4:c.195_196insA , LRG_274t1:c.195_196insA NP_000518.1:p.Val66SerfsTer?
NM_001195798.1:c.195_196insA NP_001182727.1:p.Val66SerfsTer?
NM_001195799.1:c.190+2323_190+2324insA NP_001182728.1:n.190+2323_190+2324insA
NM_001195800.1:c.195_196insA NP_001182729.1:p.Val66SerfsTer?
NM_001195803.1:c.195_196insA NP_001182732.1:p.Val66SerfsTer?
XM_011528010.1:c.195_196insA XP_011526312.1:p.Val66SerfsTer?
XM_011528011.1:c.195_196insA XP_011526313.1:p.Val66SerfsTer?
XR_244074.2:n.345_346insA
XM_011528010.2:c.195_196insA XP_011526312.1:p.Val66SerfsTer?
XR_001753685.2:n.312_313insA
XR_001753686.2:n.312_313insA
NM_000527.5:c.195_196insA MANE Select NP_000518.1:p.Val66SerfsTer?
NM_001195798.2:c.195_196insA NP_001182727.1:p.Val66SerfsTer?
NM_001195799.2:c.190+2323_190+2324insA NP_001182728.1:n.190+2323_190+2324insA
NM_001195800.2:c.195_196insA NP_001182729.1:p.Val66SerfsTer?
NM_001195803.2:c.195_196insA NP_001182732.1:p.Val66SerfsTer?