Linked Data
ClinVar Variation Id:
197245
ClinVar RCV Id:
RCV000178225
dbSNP Id:
rs797044733
MyVariant Identifiers:
chrX:g.153296113dup (hg19)
chrX:g.153296112_153296113insG (hg19)
chrX:g.154030661_154030662insG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154030663dup , CM000685.2:g.154030663dup | GRCh38 |
| NC_000023.10:g.153296114dup , CM000685.1:g.153296114dup | GRCh37 |
| NC_000023.9:g.152949308dup | NCBI36 |
| NG_007107.2:g.111466dup | |
| NG_007107.3:g.111442dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303391.11:c.1166dup MANE Plus Clinical | ENSP00000301948.6:p.Pro390SerfsTer3 | |
| ENST00000453960.7:c.1202dup MANE Select | ENSP00000395535.2:p.Pro402SerfsTer3 | |
| ENST00000303391.10:c.1166dup | ENSP00000301948.6:p.Pro390SerfsTer3 | |
| ENST00000407218.5:c.*538dup | ENSP00000384865.2:n.*538dup | |
| ENST00000453960.6:c.1202dup | ENSP00000395535.2:p.Pro402SerfsTer3 | |
| ENST00000619732.4:c.1166dup | ENSP00000480973.1:p.Pro390SerfsTer3 | |
| ENST00000628176.2:c.*538dup | ENSP00000486978.1:n.*538dup | |
| NM_001110792.1:c.1202dup | NP_001104262.1:p.Pro402SerfsTer3 | |
| NM_001316337.1:c.887dup | NP_001303266.1:p.Pro297SerfsTer3 | |
| NM_004992.3:c.1166dup | NP_004983.1:p.Pro390SerfsTer3 | |
| XM_005274681.3:c.1166dup | XP_005274738.1:p.Pro390SerfsTer3 | |
| XM_005274682.3:c.887dup | XP_005274739.1:p.Pro297SerfsTer3 | |
| XM_005274683.3:c.887dup | XP_005274740.1:p.Pro297SerfsTer3 | |
| XM_006724819.2:c.497dup | XP_006724882.1:p.Pro167SerfsTer3 | |
| XM_011531166.1:c.887dup | XP_011529468.1:p.Pro297SerfsTer3 | |
| XM_006724819.3:c.497dup | XP_006724882.1:p.Pro167SerfsTer3 | |
| XM_011531166.2:c.887dup | XP_011529468.1:p.Pro297SerfsTer3 | |
| XM_024452383.1:c.887dup | XP_024308151.1:p.Pro297SerfsTer3 | |
| XM_024452384.1:c.887dup | XP_024308152.1:p.Pro297SerfsTer3 | |
| NM_001110792.2:c.1202dup MANE Select | NP_001104262.1:p.Pro402SerfsTer3 | |
| NM_001316337.2:c.887dup | NP_001303266.1:p.Pro297SerfsTer3 | |
| NM_001369391.2:c.887dup | NP_001356320.1:p.Pro297SerfsTer3 | |
| NM_001369392.2:c.887dup | NP_001356321.1:p.Pro297SerfsTer3 | |
| NM_001369393.2:c.887dup | NP_001356322.1:p.Pro297SerfsTer3 | |
| NM_001369394.1:c.887dup | NP_001356323.1:p.Pro297SerfsTer3 | |
| NM_001369394.2:c.887dup | NP_001356323.1:p.Pro297SerfsTer3 | |
| NM_001386137.1:c.497dup | NP_001373066.1:p.Pro167SerfsTer3 | |
| NM_001386138.1:c.497dup | NP_001373067.1:p.Pro167SerfsTer3 | |
| NM_001386139.1:c.497dup | NP_001373068.1:p.Pro167SerfsTer3 | |
| NM_004992.4:c.1166dup MANE Plus Clinical | NP_004983.1:p.Pro390SerfsTer3 |