Linked Data
ClinVar Variation Id:
225329
ClinVar RCV Id:
RCV000490465
dbSNP Id:
rs766047383
ExAC:
5:149433641 C / CTGAT
gnomAD v2:
5-149433641-C-CTGAT
gnomAD v3:
5-150054078-C-CTGAT
gnomAD v4:
5-150054078-C-CTGAT
MyVariant Identifiers:
chr5:g.149433642_149433645dupTGAT (hg19)
chr5:g.149433641_149433642insTGAT (hg19)
chr5:g.150054079_150054082dupTGAT (hg38)
chr5:g.150054078_150054079insTGAT (hg38)
PubMed:
PMID:24336230
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150054079_150054082dup , CM000667.2:g.150054079_150054082dup | GRCh38 |
| NC_000005.9:g.149433642_149433645dup , CM000667.1:g.149433642_149433645dup | GRCh37 |
| NC_000005.8:g.149413835_149413838dup | NCBI36 |
| NG_012303.1:g.64291_64294dup | |
| NG_021389.1:g.58474_58477dup | |
| NG_012303.2:g.64291_64294dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675795.1:c.2906_2909dup MANE Select | ENSP00000501699.1:p.Phe971SerfsTer7 | |
| ENST00000286301.7:c.2906_2909dup | ENSP00000286301.3:p.Phe971SerfsTer7 | |
| ENST00000504875.5:c.*727_*730dup | ENSP00000422212.1:n.*727_*730dup | |
| ENST00000509861.1:n.642_645dup | ||
| NM_001288705.1:c.2906_2909dup | NP_001275634.1:p.Phe971SerfsTer7 | |
| NM_005211.3:c.2906_2909dup | NP_005202.2:p.Phe971SerfsTer7 | |
| NR_109969.1:n.2956_2959dup | ||
| NM_001288705.2:c.2906_2909dup | NP_001275634.1:p.Phe971SerfsTer7 | |
| NM_001349736.1:c.2906_2909dup | NP_001336665.1:p.Phe971SerfsTer7 | |
| NM_001288705.3:c.2906_2909dup MANE Select | NP_001275634.1:p.Phe971SerfsTer7 | |
| NM_001375320.1:c.2906_2909dup | NP_001362249.1:p.Phe971SerfsTer7 | |
| NM_001375321.1:c.2462_2465dup | NP_001362250.1:p.Phe823SerfsTer7 | |
| NR_164679.1:n.2799_2802dup | ||
| NM_001349736.2:c.2906_2909dup | NP_001336665.1:p.Phe971SerfsTer7 | |
| NM_005211.4:c.2906_2909dup | NP_005202.2:p.Phe971SerfsTer7 | |
| NR_109969.2:n.2870_2873dup |