Canonical Allele Identifier: CA16602288
Gene: LDLR HGNC NCBI
LDLR-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 375771
ClinVar RCV Id: RCV000417241
dbSNP Id: rs1057519649
MyVariant Identifiers: chr19:g.11200101dupA (hg19) chr19:g.11089425dupA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11089425dup , CM000681.2:g.11089425dup GRCh38
NC_000019.9:g.11200101dup , CM000681.1:g.11200101dup GRCh37
NC_000019.8:g.11061101dup NCBI36
NG_009060.1:g.5045dup , LRG_274:g.5045dup

Transcript Alleles

HGVS Amino-acid change
ENST00000559340.2:c.-124dup (LDLR) ENSP00000453696.2:n.-124dup
ENST00000558518.5:c.-124dup (LDLR) ENSP00000454071.1:n.-124dup
NM_000527.4:c.-124dup , LRG_274t1:c.-124dup (LDLR) NP_000518.1:n.-124dup
NM_001195798.1:c.-124dup (LDLR) NP_001182727.1:n.-124dup
NM_001195799.1:c.-124dup (LDLR) NP_001182728.1:n.-124dup
NM_001195800.1:c.-124dup (LDLR) NP_001182729.1:n.-124dup
NM_001195803.1:c.-124dup (LDLR) NP_001182732.1:n.-124dup
XM_011528010.1:c.-124dup (LDLR) XP_011526312.1:n.-124dup
XM_011528011.1:c.-124dup (LDLR) XP_011526313.1:n.-124dup
XR_244074.2:n.27dup (LDLR)
NR_163945.1:n.237dup (LDLR-AS1)
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