Linked Data
ClinVar Variation Id:
93147
ClinVar RCV Id:
RCV000078973
dbSNP Id:
rs398123428
MyVariant Identifiers:
chrX:g.76763914del (hg19)
chrX:g.76763914delC (hg19)
chrX:g.77508436del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77508437del , CM000685.2:g.77508437del | GRCh38 |
| NC_000023.10:g.76763915del , CM000685.1:g.76763915del | GRCh37 |
| NC_000023.9:g.76650571del | NCBI36 |
| NG_008838.2:g.282786del | |
| NG_008838.3:g.282834del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.7394del MANE Select | ENSP00000362441.4:p.Gly2465ValfsTer15 | |
| ENST00000675732.1:c.2492del | ENSP00000502598.1:p.Gly831ValfsTer15 | |
| ENST00000373344.9:c.7394del | ENSP00000362441.4:p.Gly2465ValfsTer15 | |
| ENST00000395603.7:c.7280del | ENSP00000378967.3:p.Gly2427ValfsTer15 | |
| ENST00000480283.5:c.*7022del | ENSP00000480196.1:n.*7022del | |
| ENST00000623706.3:n.5714del | ||
| NM_000489.4:c.7394del | NP_000480.3:p.Gly2465ValfsTer15 | |
| NM_138270.3:c.7280del | NP_612114.2:p.Gly2427ValfsTer15 | |
| XM_005262153.3:c.7391del | XP_005262210.2:p.Gly2464ValfsTer15 | |
| XM_005262154.3:c.7307del | XP_005262211.2:p.Gly2436ValfsTer15 | |
| XM_005262155.3:c.7277del | XP_005262212.2:p.Gly2426ValfsTer15 | |
| XM_005262156.3:c.7229del | XP_005262213.2:p.Gly2410ValfsTer15 | |
| XM_005262157.3:c.7190del | XP_005262214.2:p.Gly2397ValfsTer15 | |
| XM_006724666.2:c.7277del | XP_006724729.1:p.Gly2426ValfsTer15 | |
| XM_006724667.2:c.7115del | XP_006724730.1:p.Gly2372ValfsTer15 | |
| XR_938400.1:n.8986del | ||
| NM_000489.5:c.7394del | NP_000480.3:p.Gly2465ValfsTer15 | |
| XM_005262153.5:c.7391del | XP_005262210.2:p.Gly2464ValfsTer15 | |
| XM_005262154.5:c.7307del | XP_005262211.2:p.Gly2436ValfsTer15 | |
| XM_005262155.4:c.7277del | XP_005262212.2:p.Gly2426ValfsTer15 | |
| XM_005262156.4:c.7229del | XP_005262213.2:p.Gly2410ValfsTer15 | |
| XM_005262157.5:c.7190del | XP_005262214.2:p.Gly2397ValfsTer15 | |
| XM_006724666.4:c.7277del | XP_006724729.1:p.Gly2426ValfsTer15 | |
| XM_006724667.3:c.7115del | XP_006724730.1:p.Gly2372ValfsTer15 | |
| XM_017029601.2:c.7304del | XP_016885090.1:p.Gly2435ValfsTer15 | |
| XM_017029602.1:c.7274del | XP_016885091.1:p.Gly2425ValfsTer15 | |
| XM_017029603.1:c.7226del | XP_016885092.1:p.Gly2409ValfsTer15 | |
| XM_017029604.2:c.7193del | XP_016885093.1:p.Gly2398ValfsTer15 | |
| XM_017029605.1:c.7190del | XP_016885094.1:p.Gly2397ValfsTer15 | |
| XM_017029606.2:c.7163del | XP_016885095.1:p.Gly2388ValfsTer15 | |
| XM_017029607.2:c.7160del | XP_016885096.1:p.Gly2387ValfsTer15 | |
| XM_017029608.2:c.7112del | XP_016885097.1:p.Gly2371ValfsTer15 | |
| XM_017029609.1:c.7076del | XP_016885098.1:p.Gly2359ValfsTer15 | |
| XM_017029610.1:c.7073del | XP_016885099.1:p.Gly2358ValfsTer15 | |
| XM_017029611.1:c.7028del | XP_016885100.1:p.Gly2343ValfsTer15 | |
| XR_001755700.2:n.7693del | ||
| NM_138270.4:c.7280del | NP_612114.2:p.Gly2427ValfsTer15 | |
| NM_000489.6:c.7394del MANE Select | NP_000480.3:p.Gly2465ValfsTer15 | |
| NM_138270.5:c.7280del | NP_612114.2:p.Gly2427ValfsTer15 |