Linked Data
ClinVar Variation Id:
26
ClinVar RCV Id:
RCV000000043
dbSNP Id:
rs397704714
gnomAD v2:
20-25288616-G-GGCTCTTA
gnomAD v4:
20-25307980-G-GGCTCTTA
MyVariant Identifiers:
chr20:g.25288617_25288623dupGCTCTTA (hg19)
chr20:g.25288616_25288617insGCTCTTA (hg19)
chr20:g.25307981_25307987dupGCTCTTA (hg38)
chr20:g.25307980_25307981insGCTCTTA (hg38)
PubMed:
PMID:20797687
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.25307984_25307990dup , CM000682.2:g.25307984_25307990dup | GRCh38 |
| NC_000020.10:g.25288620_25288626dup , CM000682.1:g.25288620_25288626dup | GRCh37 |
| NC_000020.9:g.25236620_25236626dup | NCBI36 |
| NG_028119.1:g.87996_88002dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000339157.10:c.846_852dup MANE Select | ENSP00000341408.5:p.His285Ter | |
| ENST00000376542.8:c.846_852dup | ENSP00000365725.3:p.His285Ter | |
| ENST00000465694.2:c.300_306dup | ENSP00000459278.2:p.His103Ter | |
| ENST00000671784.1:c.300_306dup | ENSP00000500451.1:p.His103Ter | |
| ENST00000671858.1:c.300_306dup | ENSP00000500550.1:p.His103Ter | |
| ENST00000672001.1:n.357_363dup | ||
| ENST00000672114.1:c.300_306dup | ENSP00000499945.1:p.His103Ter | |
| ENST00000672258.1:c.300_306dup | ENSP00000499868.1:p.His103Ter | |
| ENST00000672331.1:c.300_306dup | ENSP00000500286.1:p.His103Ter | |
| ENST00000672358.1:c.300_306dup | ENSP00000500062.1:p.His103Ter | |
| ENST00000672406.1:c.*185_*191dup | ENSP00000500208.1:n.*185_*191dup | |
| ENST00000672566.1:c.375_381dup | ENSP00000500106.1:p.His128Ter | |
| ENST00000672596.1:c.300_306dup | ENSP00000500290.1:p.His103Ter | |
| ENST00000672871.1:c.300_306dup | ENSP00000499949.1:p.His103Ter | |
| ENST00000673094.1:c.300_306dup | ENSP00000500257.1:p.His103Ter | |
| ENST00000673121.1:c.402_408dup | ENSP00000499839.1:p.His137Ter | |
| ENST00000673227.1:c.300_306dup | ENSP00000500514.1:p.His103Ter | |
| ENST00000673524.1:c.408_414dup | ||
| ENST00000339157.9:c.846_852dup | ENSP00000341408.5:p.His285Ter | |
| ENST00000376542.7:c.846_852dup | ENSP00000365725.3:p.His285Ter | |
| ENST00000481556.1:n.500_506dup | ||
| ENST00000491682.5:c.375_381dup | ENSP00000459495.1:p.His128Ter | |
| ENST00000576316.5:c.150_156dup | ENSP00000459121.1:p.His53Ter | |
| NM_001042472.2:c.846_852dup | NP_001035937.1:p.His285Ter | |
| NM_015600.4:c.846_852dup | NP_056415.1:p.His285Ter | |
| XM_005260698.1:c.846_852dup | XP_005260755.1:p.His285Ter | |
| XM_005260699.3:c.846_852dup | XP_005260756.1:p.His285Ter | |
| XM_005260700.1:c.375_381dup | XP_005260757.1:p.His128Ter | |
| XM_011529214.1:c.846_852dup | XP_011527516.1:p.His285Ter | |
| XM_011529215.1:c.375_381dup | XP_011527517.1:p.His128Ter | |
| XM_011529216.1:c.375_381dup | XP_011527518.1:p.His128Ter | |
| XM_011529217.1:c.189_195dup | XP_011527519.1:p.His66Ter | |
| XM_011529218.1:c.189_195dup | XP_011527520.1:p.His66Ter | |
| XM_011529214.2:c.846_852dup | XP_011527516.1:p.His285Ter | |
| XM_017027796.1:c.375_381dup | XP_016883285.1:p.His128Ter | |
| XR_002958465.1:n.856_862dup | ||
| XR_002958466.1:n.976_982dup | ||
| XR_002958467.1:n.535_541dup | ||
| NM_001042472.3:c.846_852dup MANE Select | NP_001035937.1:p.His285Ter | |
| NM_015600.5:c.846_852dup | NP_056415.1:p.His285Ter |