Linked Data
ClinVar Variation Id:
143635
ClinVar RCV Id:
RCV000133175
dbSNP Id:
rs267608507
MyVariant Identifiers:
chrX:g.153296667_153296668delinsCT (hg19)
chrX:g.154031216_154031217delinsCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154031216_154031217delinsCT , CM000685.2:g.154031216_154031217delinsCT | GRCh38 |
| NC_000023.10:g.153296667_153296668delinsCT , CM000685.1:g.153296667_153296668delinsCT | GRCh37 |
| NC_000023.9:g.152949861_152949862delinsCT | NCBI36 |
| NG_007107.2:g.110911_110912delinsAG | |
| NG_007107.3:g.110887_110888delinsAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303391.11:c.611_612delinsAG MANE Plus Clinical | ENSP00000301948.6:p.Ser204Ter | |
| ENST00000453960.7:c.647_648delinsAG MANE Select | ENSP00000395535.2:p.Ser216Ter | |
| ENST00000637917.1:c.65+179_65+180delinsAG | ||
| ENST00000303391.10:c.611_612delinsAG | ENSP00000301948.6:p.Ser204Ter | |
| ENST00000407218.5:c.538_539delinsAG | ENSP00000384865.2:p.Gln180Arg | |
| ENST00000453960.6:c.647_648delinsAG | ENSP00000395535.2:p.Ser216Ter | |
| ENST00000619732.4:c.611_612delinsAG | ENSP00000480973.1:p.Ser204Ter | |
| ENST00000622433.4:c.599_600delinsAG | ENSP00000484470.1:p.Ser200Ter | |
| ENST00000628176.2:c.502_503delinsAG | ENSP00000486978.1:p.Gln168Arg | |
| NM_001110792.1:c.647_648delinsAG | NP_001104262.1:p.Ser216Ter | |
| NM_001316337.1:c.332_333delinsAG | NP_001303266.1:p.Ser111Ter | |
| NM_004992.3:c.611_612delinsAG | NP_004983.1:p.Ser204Ter | |
| XM_005274681.3:c.611_612delinsAG | XP_005274738.1:p.Ser204Ter | |
| XM_005274682.3:c.332_333delinsAG | XP_005274739.1:p.Ser111Ter | |
| XM_005274683.3:c.332_333delinsAG | XP_005274740.1:p.Ser111Ter | |
| XM_006724819.2:c.-59_-58delinsAG | XP_006724882.1:n.-59_-58delinsAG | |
| XM_011531166.1:c.332_333delinsAG | XP_011529468.1:p.Ser111Ter | |
| XM_006724819.3:c.-59_-58delinsAG | XP_006724882.1:n.-59_-58delinsAG | |
| XM_011531166.2:c.332_333delinsAG | XP_011529468.1:p.Ser111Ter | |
| XM_024452383.1:c.332_333delinsAG | XP_024308151.1:p.Ser111Ter | |
| XM_024452384.1:c.332_333delinsAG | XP_024308152.1:p.Ser111Ter | |
| NM_001110792.2:c.647_648delinsAG MANE Select | NP_001104262.1:p.Ser216Ter | |
| NM_001316337.2:c.332_333delinsAG | NP_001303266.1:p.Ser111Ter | |
| NM_001369391.2:c.332_333delinsAG | NP_001356320.1:p.Ser111Ter | |
| NM_001369392.2:c.332_333delinsAG | NP_001356321.1:p.Ser111Ter | |
| NM_001369393.2:c.332_333delinsAG | NP_001356322.1:p.Ser111Ter | |
| NM_001369394.1:c.332_333delinsAG | NP_001356323.1:p.Ser111Ter | |
| NM_001369394.2:c.332_333delinsAG | NP_001356323.1:p.Ser111Ter | |
| NM_001386137.1:c.-59_-58delinsAG | NP_001373066.1:n.-59_-58delinsAG | |
| NM_001386138.1:c.-59_-58delinsAG | NP_001373067.1:n.-59_-58delinsAG | |
| NM_001386139.1:c.-59_-58delinsAG | NP_001373068.1:n.-59_-58delinsAG | |
| NM_004992.4:c.611_612delinsAG MANE Plus Clinical | NP_004983.1:p.Ser204Ter |