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:
143622
ClinVar RCV Id:
RCV000133162
dbSNP Id:
rs61749708
MyVariant Identifiers:
chrX:g.153296713dupC (hg19)
chrX:g.153296712_153296713insC (hg19)
chrX:g.154031262dupC (hg38)
chrX:g.154031261_154031262insC (hg38)
PubMed:
PMID:20031356
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154031265dup , CM000685.2:g.154031265dup | GRCh38 |
| NC_000023.10:g.153296716dup , CM000685.1:g.153296716dup | GRCh37 |
| NC_000023.9:g.152949910dup | NCBI36 |
| NG_007107.2:g.110866dup | |
| NG_007107.3:g.110842dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303391.11:c.566dup MANE Plus Clinical | ENSP00000301948.6:p.Arg190ThrfsTer? | |
| ENST00000453960.7:c.602dup MANE Select | ENSP00000395535.2:p.Arg202ThrfsTer? | |
| ENST00000637917.1:c.65+134dup | ||
| ENST00000303391.10:c.566dup | ENSP00000301948.6:p.Arg190ThrfsTer? | |
| ENST00000407218.5:c.493dup | ENSP00000384865.2:p.Asp165GlyfsTer? | |
| ENST00000453960.6:c.602dup | ENSP00000395535.2:p.Arg202ThrfsTer? | |
| ENST00000619732.4:c.566dup | ENSP00000480973.1:p.Arg190ThrfsTer? | |
| ENST00000622433.4:c.554dup | ENSP00000484470.1:p.Arg186ThrfsTer? | |
| ENST00000628176.2:c.457dup | ENSP00000486978.1:p.Asp153GlyfsTer? | |
| NM_001110792.1:c.602dup | NP_001104262.1:p.Arg202ThrfsTer? | |
| NM_001316337.1:c.287dup | NP_001303266.1:p.Arg97ThrfsTer? | |
| NM_004992.3:c.566dup | NP_004983.1:p.Arg190ThrfsTer? | |
| XM_005274681.3:c.566dup | XP_005274738.1:p.Arg190ThrfsTer? | |
| XM_005274682.3:c.287dup | XP_005274739.1:p.Arg97ThrfsTer? | |
| XM_005274683.3:c.287dup | XP_005274740.1:p.Arg97ThrfsTer? | |
| XM_006724819.2:c.-104dup | XP_006724882.1:n.-104dup | |
| XM_011531166.1:c.287dup | XP_011529468.1:p.Arg97ThrfsTer? | |
| XM_006724819.3:c.-104dup | XP_006724882.1:n.-104dup | |
| XM_011531166.2:c.287dup | XP_011529468.1:p.Arg97ThrfsTer? | |
| XM_024452383.1:c.287dup | XP_024308151.1:p.Arg97ThrfsTer? | |
| XM_024452384.1:c.287dup | XP_024308152.1:p.Arg97ThrfsTer? | |
| NM_001110792.2:c.602dup MANE Select | NP_001104262.1:p.Arg202ThrfsTer? | |
| NM_001316337.2:c.287dup | NP_001303266.1:p.Arg97ThrfsTer? | |
| NM_001369391.2:c.287dup | NP_001356320.1:p.Arg97ThrfsTer? | |
| NM_001369392.2:c.287dup | NP_001356321.1:p.Arg97ThrfsTer? | |
| NM_001369393.2:c.287dup | NP_001356322.1:p.Arg97ThrfsTer? | |
| NM_001369394.1:c.287dup | NP_001356323.1:p.Arg97ThrfsTer? | |
| NM_001369394.2:c.287dup | NP_001356323.1:p.Arg97ThrfsTer? | |
| NM_001386137.1:c.-104dup | NP_001373066.1:n.-104dup | |
| NM_001386138.1:c.-104dup | NP_001373067.1:n.-104dup | |
| NM_001386139.1:c.-104dup | NP_001373068.1:n.-104dup | |
| NM_004992.4:c.566dup MANE Plus Clinical | NP_004983.1:p.Arg190ThrfsTer? |