Canonical Allele Identifier: CA16602345
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 375831
ClinVar RCV Id: RCV000417295
dbSNP Id: rs1057519682

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120460dup , CM000681.2:g.11120460dup GRCh38
NC_000019.9:g.11231136dup , CM000681.1:g.11231136dup GRCh37
NC_000019.8:g.11092136dup NCBI36
NG_009060.1:g.36080dup , LRG_274:g.36080dup

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.2336dup ENSP00000252444.6:p.Phe780ValfsTer23
ENST00000559340.2:c.*147dup ENSP00000453696.2:n.*147dup
ENST00000560467.2:c.1958dup ENSP00000453513.2:p.Phe654ValfsTer23
ENST00000558518.6:c.2078dup MANE Select ENSP00000454071.1:p.Phe694ValfsTer23
ENST00000252444.9:c.2332dup
ENST00000455727.6:c.1574dup ENSP00000397829.2:p.Phe526ValfsTer23
ENST00000535915.5:c.1955dup ENSP00000440520.1:p.Phe653ValfsTer23
ENST00000545707.5:c.1606+227dup ENSP00000437639.1:n.1606+227dup
ENST00000557933.5:c.2078dup ENSP00000453557.1:p.Phe694ValfsTer23
ENST00000558013.5:c.2078dup ENSP00000453346.1:p.Phe694ValfsTer23
ENST00000558518.5:c.2078dup ENSP00000454071.1:p.Phe694ValfsTer23
NM_000527.4:c.2078dup , LRG_274t1:c.2078dup NP_000518.1:p.Phe694ValfsTer23
NM_001195798.1:c.2078dup NP_001182727.1:p.Phe694ValfsTer23
NM_001195799.1:c.1955dup NP_001182728.1:p.Phe653ValfsTer23
NM_001195800.1:c.1574dup NP_001182729.1:p.Phe526ValfsTer23
NM_001195803.1:c.1606+227dup NP_001182732.1:n.1606+227dup
XM_011528010.1:c.2078dup XP_011526312.1:p.Phe694ValfsTer23
XM_011528011.1:c.1697dup XP_011526313.1:p.Phe567ValfsTer23
XR_244074.2:n.2088dup
XM_011528010.2:c.2078dup XP_011526312.1:p.Phe694ValfsTer23
XR_001753685.2:n.2195dup
XR_001753686.2:n.2055dup
NM_000527.5:c.2078dup MANE Select NP_000518.1:p.Phe694ValfsTer23
NM_001195798.2:c.2078dup NP_001182727.1:p.Phe694ValfsTer23
NM_001195799.2:c.1955dup NP_001182728.1:p.Phe653ValfsTer23
NM_001195800.2:c.1574dup NP_001182729.1:p.Phe526ValfsTer23
NM_001195803.2:c.1606+227dup NP_001182732.1:n.1606+227dup