Canonical Allele Identifier: CA645373245
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 430796
ClinVar RCV Id: RCV000495912 RCV002231632
dbSNP Id: rs1131692222
MyVariant Identifiers: chr19:g.11233938_11233943dup (hg19) chr19:g.11123262_11123267dup (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123262_11123267dup , CM000681.2:g.11123262_11123267dup GRCh38
NC_000019.9:g.11233938_11233943dup , CM000681.1:g.11233938_11233943dup GRCh37
NC_000019.8:g.11094938_11094943dup NCBI36
NG_009060.1:g.38882_38887dup , LRG_274:g.38882_38887dup

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.2487_2492dup ENSP00000252444.6:p.Pro831_Val832insArgPr...
ENST00000559340.2:c.*298_*303dup ENSP00000453696.2:n.*298_*303dup
ENST00000560467.2:c.2109_2114dup ENSP00000453513.2:p.Pro705_Val706insArgPr...
ENST00000558518.6:c.2229_2234dup MANE Select ENSP00000454071.1:p.Pro745_Val746insArgPr...
ENST00000252444.9:c.2483_2488dup
ENST00000455727.6:c.1725_1730dup ENSP00000397829.2:p.Pro577_Val578insArgPr...
ENST00000535915.5:c.2106_2111dup ENSP00000440520.1:p.Pro704_Val705insArgPr...
ENST00000545707.5:c.1695_1700dup ENSP00000437639.1:p.Pro567_Val568insArgPr...
ENST00000557933.5:c.2229_2234dup ENSP00000453557.1:p.Pro745_Val746insArgPr...
ENST00000558013.5:c.2229_2234dup ENSP00000453346.1:p.Pro745_Val746insArgPr...
ENST00000558518.5:c.2229_2234dup ENSP00000454071.1:p.Pro745_Val746insArgPr...
NM_000527.4:c.2229_2234dup , LRG_274t1:c.2229_2234dup NP_000518.1:p.Pro745_Val746insArgPro
NM_001195798.1:c.2229_2234dup NP_001182727.1:p.Pro745_Val746insArgPro
NM_001195799.1:c.2106_2111dup NP_001182728.1:p.Pro704_Val705insArgPro
NM_001195800.1:c.1725_1730dup NP_001182729.1:p.Pro577_Val578insArgPro
NM_001195803.1:c.1695_1700dup NP_001182732.1:p.Pro567_Val568insArgPro
XM_011528010.1:c.2229_2234dup XP_011526312.1:p.Pro745_Val746insArgPro
XM_011528011.1:c.1848_1853dup XP_011526313.1:p.Pro618_Val619insArgPro
XR_244074.2:n.2239_2244dup
XM_011528010.2:c.2229_2234dup XP_011526312.1:p.Pro745_Val746insArgPro
XR_001753685.2:n.2563_2568dup
XR_001753686.2:n.2206_2211dup
NM_000527.5:c.2229_2234dup MANE Select NP_000518.1:p.Pro745_Val746insArgPro
NM_001195798.2:c.2229_2234dup NP_001182727.1:p.Pro745_Val746insArgPro
NM_001195799.2:c.2106_2111dup NP_001182728.1:p.Pro704_Val705insArgPro
NM_001195800.2:c.1725_1730dup NP_001182729.1:p.Pro577_Val578insArgPro
NM_001195803.2:c.1695_1700dup NP_001182732.1:p.Pro567_Val568insArgPro
Search 100 bp 5'
Search 100 bp 3'