Linked Data
ClinVar Variation Id:
137627
dbSNP Id:
rs759390822
ExAC:
20:19956393 A / AC
gnomAD v2:
20-19956393-A-AC
gnomAD v3:
20-19975749-A-AC
gnomAD v4:
20-19975749-A-AC
MyVariant Identifiers:
chr20:g.19956400dupC (hg19)
chr20:g.19956394_19956395insC (hg19)
chr20:g.19956393_19956394insC (hg19)
chr20:g.19975756dupC (hg38)
chr20:g.19975749_19975750insC (hg38)
PubMed:
PMID:24449201
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.19975756dup , CM000682.2:g.19975756dup | GRCh38 |
| NC_000020.10:g.19956400dup , CM000682.1:g.19956400dup | GRCh37 |
| NC_000020.9:g.19904400dup | NCBI36 |
| NG_016310.1:g.91191dup | |
| NG_016310.2:g.91191dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255006.12:c.1731dup MANE Select | ENSP00000255006.7:p.Ile578HisfsTer7 | |
| ENST00000648440.1:c.1731dup | ENSP00000498085.1:p.Ile578HisfsTer7 | |
| ENST00000255006.10:c.1878dup | ENSP00000255006.6:p.Ile627HisfsTer7 | |
| ENST00000440354.2:c.464-14250dup | ENSP00000391239.2:n.464-14250dup | |
| ENST00000484638.1:n.1575dup | ||
| NM_001242581.1:c.1878dup | NP_001229510.1:p.Ile627HisfsTer7 | |
| NM_018993.3:c.1731dup | NP_061866.1:p.Ile578HisfsTer7 | |
| XM_005260731.2:c.1731dup | XP_005260788.1:p.Ile578HisfsTer7 | |
| XM_005260732.2:c.1596dup | XP_005260789.1:p.Ile533HisfsTer7 | |
| XM_005260733.2:c.1113dup | XP_005260790.1:p.Ile372HisfsTer7 | |
| XM_006723574.2:c.1731dup | XP_006723637.1:p.Ile578HisfsTer7 | |
| XM_006723575.2:c.1731dup | XP_006723638.1:p.Ile578HisfsTer7 | |
| XM_006723577.2:c.1731dup | XP_006723640.1:p.Ile578HisfsTer7 | |
| XM_011529255.1:c.1827dup | XP_011527557.1:p.Ile610HisfsTer7 | |
| XM_011529256.1:c.1887dup | XP_011527558.1:p.Ile630HisfsTer7 | |
| XM_011529257.1:c.1731dup | XP_011527559.1:p.Ile578HisfsTer7 | |
| XM_011529258.1:c.1731dup | XP_011527560.1:p.Ile578HisfsTer7 | |
| XM_011529259.1:c.1572dup | XP_011527561.1:p.Ile525HisfsTer7 | |
| XM_011529260.1:c.1731dup | XP_011527562.1:p.Ile578HisfsTer7 | |
| XM_006723574.4:c.1731dup | XP_006723637.1:p.Ile578HisfsTer7 | |
| XM_006723575.4:c.1731dup | XP_006723638.1:p.Ile578HisfsTer7 | |
| XM_011529255.2:c.1932dup | XP_011527557.2:p.Ile645HisfsTer7 | |
| XM_011529257.2:c.1731dup | XP_011527559.1:p.Ile578HisfsTer7 | |
| XM_011529258.2:c.1731dup | XP_011527560.1:p.Ile578HisfsTer7 | |
| XM_011529259.2:c.1572dup | XP_011527561.1:p.Ile525HisfsTer7 | |
| XM_017027887.1:c.1878dup | XP_016883376.1:p.Ile627HisfsTer7 | |
| XM_017027888.1:c.1878dup | XP_016883377.1:p.Ile627HisfsTer7 | |
| XM_017027889.1:c.1821dup | XP_016883378.1:p.Ile608HisfsTer7 | |
| XM_017027890.1:c.1731dup | XP_016883379.1:p.Ile578HisfsTer7 | |
| XM_017027891.1:c.1596dup | XP_016883380.1:p.Ile533HisfsTer7 | |
| XM_017027892.1:c.1572dup | XP_016883381.1:p.Ile525HisfsTer7 | |
| XM_017027893.1:c.1932dup | XP_016883382.1:p.Ile645HisfsTer7 | |
| XM_024451911.1:c.1731dup | XP_024307679.1:p.Ile578HisfsTer7 | |
| XM_024451912.1:c.1731dup | XP_024307680.1:p.Ile578HisfsTer7 | |
| XM_024451913.1:c.1731dup | XP_024307681.1:p.Ile578HisfsTer7 | |
| NM_001242581.2:c.1878dup | NP_001229510.1:p.Ile627HisfsTer7 | |
| NM_001378238.1:c.1113dup | NP_001365167.1:p.Ile372HisfsTer7 | |
| NM_018993.4:c.1731dup MANE Select | NP_061866.1:p.Ile578HisfsTer7 |