SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
This migration is underway but taking longer than originally estimated.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
This migration is underway but taking longer than originally estimated.
Linked Data
ClinVar Variation Id:
143623
ClinVar RCV Id:
RCV000133163
dbSNP Id:
rs61749709
MyVariant Identifiers:
chrX:g.153296712dupT (hg19)
chrX:g.153296711_153296712insT (hg19)
chrX:g.154031261dupT (hg38)
chrX:g.154031260_154031261insT (hg38)
PubMed:
PMID:15691364
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154031261dup , CM000685.2:g.154031261dup | GRCh38 |
| NC_000023.10:g.153296712dup , CM000685.1:g.153296712dup | GRCh37 |
| NC_000023.9:g.152949906dup | NCBI36 |
| NG_007107.2:g.110867dup | |
| NG_007107.3:g.110843dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303391.11:c.567dup MANE Plus Clinical | ENSP00000301948.6:p.Arg190ThrfsTer? | |
| ENST00000453960.7:c.603dup MANE Select | ENSP00000395535.2:p.Arg202ThrfsTer? | |
| ENST00000637917.1:c.65+135dup | ||
| ENST00000303391.10:c.567dup | ENSP00000301948.6:p.Arg190ThrfsTer? | |
| ENST00000407218.5:c.494dup | ENSP00000384865.2:p.Asp165GlufsTer? | |
| ENST00000453960.6:c.603dup | ENSP00000395535.2:p.Arg202ThrfsTer? | |
| ENST00000619732.4:c.567dup | ENSP00000480973.1:p.Arg190ThrfsTer? | |
| ENST00000622433.4:c.555dup | ENSP00000484470.1:p.Arg186ThrfsTer? | |
| ENST00000628176.2:c.458dup | ENSP00000486978.1:p.Asp153GlufsTer? | |
| NM_001110792.1:c.603dup | NP_001104262.1:p.Arg202ThrfsTer? | |
| NM_001316337.1:c.288dup | NP_001303266.1:p.Arg97ThrfsTer? | |
| NM_004992.3:c.567dup | NP_004983.1:p.Arg190ThrfsTer? | |
| XM_005274681.3:c.567dup | XP_005274738.1:p.Arg190ThrfsTer? | |
| XM_005274682.3:c.288dup | XP_005274739.1:p.Arg97ThrfsTer? | |
| XM_005274683.3:c.288dup | XP_005274740.1:p.Arg97ThrfsTer? | |
| XM_006724819.2:c.-103dup | XP_006724882.1:n.-103dup | |
| XM_011531166.1:c.288dup | XP_011529468.1:p.Arg97ThrfsTer? | |
| XM_006724819.3:c.-103dup | XP_006724882.1:n.-103dup | |
| XM_011531166.2:c.288dup | XP_011529468.1:p.Arg97ThrfsTer? | |
| XM_024452383.1:c.288dup | XP_024308151.1:p.Arg97ThrfsTer? | |
| XM_024452384.1:c.288dup | XP_024308152.1:p.Arg97ThrfsTer? | |
| NM_001110792.2:c.603dup MANE Select | NP_001104262.1:p.Arg202ThrfsTer? | |
| NM_001316337.2:c.288dup | NP_001303266.1:p.Arg97ThrfsTer? | |
| NM_001369391.2:c.288dup | NP_001356320.1:p.Arg97ThrfsTer? | |
| NM_001369392.2:c.288dup | NP_001356321.1:p.Arg97ThrfsTer? | |
| NM_001369393.2:c.288dup | NP_001356322.1:p.Arg97ThrfsTer? | |
| NM_001369394.1:c.288dup | NP_001356323.1:p.Arg97ThrfsTer? | |
| NM_001369394.2:c.288dup | NP_001356323.1:p.Arg97ThrfsTer? | |
| NM_001386137.1:c.-103dup | NP_001373066.1:n.-103dup | |
| NM_001386138.1:c.-103dup | NP_001373067.1:n.-103dup | |
| NM_001386139.1:c.-103dup | NP_001373068.1:n.-103dup | |
| NM_004992.4:c.567dup MANE Plus Clinical | NP_004983.1:p.Arg190ThrfsTer? |