SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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.
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.
Linked Data
ClinVar Variation Id:
143473
ClinVar RCV Id:
RCV000133003
dbSNP Id:
rs61754431
MyVariant Identifiers:
chrX:g.153297895dupT (hg19)
chrX:g.153297894_153297895insT (hg19)
chrX:g.154032444dupT (hg38)
chrX:g.154032443_154032444insT (hg38)
PubMed:
PMID:12325033
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154032444dup , CM000685.2:g.154032444dup | GRCh38 |
| NC_000023.10:g.153297895dup , CM000685.1:g.153297895dup | GRCh37 |
| NC_000023.9:g.152951089dup | NCBI36 |
| NG_007107.2:g.109684dup | |
| NG_007107.3:g.109660dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303391.11:c.140dup MANE Plus Clinical | ENSP00000301948.6:p.Pro48AlafsTer8 | |
| ENST00000453960.7:c.176dup MANE Select | ENSP00000395535.2:p.Pro60AlafsTer8 | |
| ENST00000303391.10:c.140dup | ENSP00000301948.6:p.Pro48AlafsTer8 | |
| ENST00000369957.5:c.*194dup | ENSP00000358973.4:n.*194dup | |
| ENST00000407218.5:c.176dup | ENSP00000384865.2:p.Pro60AlafsTer8 | |
| ENST00000415944.3:c.140dup | ENSP00000416267.1:p.Pro48AlafsTer? | |
| ENST00000453960.6:c.176dup | ENSP00000395535.2:p.Pro60AlafsTer8 | |
| ENST00000460227.4:n.1289dup | ||
| ENST00000463644.5:n.1079dup | ||
| ENST00000481807.3:n.426dup | ||
| ENST00000486506.5:n.2488dup | ||
| ENST00000488293.4:n.1189dup | ||
| ENST00000496908.5:n.271dup | ||
| ENST00000611468.1:c.128dup | ENSP00000479736.1:p.Pro44AlafsTer8 | |
| ENST00000619732.4:c.140dup | ENSP00000480973.1:p.Pro48AlafsTer8 | |
| ENST00000622433.4:c.128dup | ENSP00000484470.1:p.Pro44AlafsTer8 | |
| ENST00000628176.2:c.140dup | ENSP00000486978.1:p.Pro48AlafsTer8 | |
| ENST00000631210.1:n.419dup | ||
| NM_001110792.1:c.176dup | NP_001104262.1:p.Pro60AlafsTer8 | |
| NM_001316337.1:c.-140dup | NP_001303266.1:n.-140dup | |
| NM_004992.3:c.140dup | NP_004983.1:p.Pro48AlafsTer8 | |
| XM_005274681.3:c.140dup | XP_005274738.1:p.Pro48AlafsTer8 | |
| XM_005274682.3:c.-140dup | XP_005274739.1:n.-140dup | |
| XM_005274683.3:c.-140dup | XP_005274740.1:n.-140dup | |
| XM_011531166.1:c.-140dup | XP_011529468.1:n.-140dup | |
| XM_006724819.3:c.-421dup | XP_006724882.1:n.-421dup | |
| XM_011531166.2:c.-140dup | XP_011529468.1:n.-140dup | |
| XM_024452383.1:c.-140dup | XP_024308151.1:n.-140dup | |
| XM_024452384.1:c.-140dup | XP_024308152.1:n.-140dup | |
| NM_001110792.2:c.176dup MANE Select | NP_001104262.1:p.Pro60AlafsTer8 | |
| NM_001316337.2:c.-140dup | NP_001303266.1:n.-140dup | |
| NM_001369391.2:c.-140dup | NP_001356320.1:n.-140dup | |
| NM_001369392.2:c.-140dup | NP_001356321.1:n.-140dup | |
| NM_001369393.2:c.-140dup | NP_001356322.1:n.-140dup | |
| NM_001369394.1:c.-140dup | NP_001356323.1:n.-140dup | |
| NM_001369394.2:c.-140dup | NP_001356323.1:n.-140dup | |
| NM_001386137.1:c.-421dup | NP_001373066.1:n.-421dup | |
| NM_001386138.1:c.-421dup | NP_001373067.1:n.-421dup | |
| NM_001386139.1:c.-421dup | NP_001373068.1:n.-421dup | |
| NM_004992.4:c.140dup MANE Plus Clinical | NP_004983.1:p.Pro48AlafsTer8 |