Canonical Allele Identifier: CA10576285
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 226328
ClinVar RCV Id: RCV000211601 RCV001256904 RCV001389664
dbSNP Id: rs875989903
gnomAD v4: 19-11105553-G-GT
MyVariant Identifiers: chr19:g.11216230dupT (hg19) chr19:g.11105554dupT (hg38)
PubMed: PMID:19446849 PMID:27765764
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105554dup , CM000681.2:g.11105554dup GRCh38
NC_000019.9:g.11216230dup , CM000681.1:g.11216230dup GRCh37
NC_000019.8:g.11077230dup NCBI36
NG_009060.1:g.21174dup , LRG_274:g.21174dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.906dup ENSP00000252444.6:p.Asp303Ter
ENST00000559340.2:c.648dup ENSP00000453696.2:p.Asp217Ter
ENST00000560467.2:c.648dup ENSP00000453513.2:p.Asp217Ter
ENST00000558518.6:c.648dup MANE Select ENSP00000454071.1:p.Asp217Ter
ENST00000252444.9:c.902dup
ENST00000455727.6:c.314-1838dup ENSP00000397829.2:n.314-1838dup
ENST00000535915.5:c.525dup ENSP00000440520.1:p.Asp176Ter
ENST00000545707.5:c.314-1011dup ENSP00000437639.1:n.314-1011dup
ENST00000557933.5:c.648dup ENSP00000453557.1:p.Asp217Ter
ENST00000558013.5:c.648dup ENSP00000453346.1:p.Asp217Ter
ENST00000558518.5:c.648dup ENSP00000454071.1:p.Asp217Ter
ENST00000560467.1:c.248dup
NM_000527.4:c.648dup , LRG_274t1:c.648dup NP_000518.1:p.Asp217Ter
NM_001195798.1:c.648dup NP_001182727.1:p.Asp217Ter
NM_001195799.1:c.525dup NP_001182728.1:p.Asp176Ter
NM_001195800.1:c.314-1838dup NP_001182729.1:n.314-1838dup
NM_001195803.1:c.314-1011dup NP_001182732.1:n.314-1011dup
XM_011528010.1:c.648dup XP_011526312.1:p.Asp217Ter
XM_011528011.1:c.314-1011dup XP_011526313.1:n.314-1011dup
XR_244074.2:n.798dup
XM_011528010.2:c.648dup XP_011526312.1:p.Asp217Ter
XR_001753685.2:n.765dup
XR_001753686.2:n.765dup
NM_000527.5:c.648dup MANE Select NP_000518.1:p.Asp217Ter
NM_001195798.2:c.648dup NP_001182727.1:p.Asp217Ter
NM_001195799.2:c.525dup NP_001182728.1:p.Asp176Ter
NM_001195800.2:c.314-1838dup NP_001182729.1:n.314-1838dup
NM_001195803.2:c.314-1011dup NP_001182732.1:n.314-1011dup
Search 100 bp 5'
Search 100 bp 3'