WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Linked Data
ClinVar Variation Id:
143428
ClinVar RCV Id:
RCV000132954
dbSNP Id:
rs267608610
MyVariant Identifiers:
chrX:g.153296089dupT (hg19)
chrX:g.153296088_153296089insT (hg19)
chrX:g.154030638dupT (hg38)
chrX:g.154030637_154030638insT (hg38)
PubMed:
PMID:11524741
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154030638dup , CM000685.2:g.154030638dup | GRCh38 |
| NC_000023.10:g.153296089dup , CM000685.1:g.153296089dup | GRCh37 |
| NC_000023.9:g.152949283dup | NCBI36 |
| NG_007107.2:g.111490dup | |
| NG_007107.3:g.111466dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303391.11:c.1190dup MANE Plus Clinical | ENSP00000301948.6:p.Asp398GlyfsTer7 | |
| ENST00000453960.7:c.1226dup MANE Select | ENSP00000395535.2:p.Asp410GlyfsTer7 | |
| ENST00000303391.10:c.1190dup | ENSP00000301948.6:p.Asp398GlyfsTer7 | |
| ENST00000407218.5:c.*562dup | ENSP00000384865.2:n.*562dup | |
| ENST00000453960.6:c.1226dup | ENSP00000395535.2:p.Asp410GlyfsTer7 | |
| ENST00000619732.4:c.1190dup | ENSP00000480973.1:p.Asp398GlyfsTer7 | |
| ENST00000628176.2:c.*562dup | ENSP00000486978.1:n.*562dup | |
| NM_001110792.1:c.1226dup | NP_001104262.1:p.Asp410GlyfsTer7 | |
| NM_001316337.1:c.911dup | NP_001303266.1:p.Asp305GlyfsTer7 | |
| NM_004992.3:c.1190dup | NP_004983.1:p.Asp398GlyfsTer7 | |
| XM_005274681.3:c.1190dup | XP_005274738.1:p.Asp398GlyfsTer7 | |
| XM_005274682.3:c.911dup | XP_005274739.1:p.Asp305GlyfsTer7 | |
| XM_005274683.3:c.911dup | XP_005274740.1:p.Asp305GlyfsTer7 | |
| XM_006724819.2:c.521dup | XP_006724882.1:p.Asp175GlyfsTer7 | |
| XM_011531166.1:c.911dup | XP_011529468.1:p.Asp305GlyfsTer7 | |
| XM_006724819.3:c.521dup | XP_006724882.1:p.Asp175GlyfsTer7 | |
| XM_011531166.2:c.911dup | XP_011529468.1:p.Asp305GlyfsTer7 | |
| XM_024452383.1:c.911dup | XP_024308151.1:p.Asp305GlyfsTer7 | |
| XM_024452384.1:c.911dup | XP_024308152.1:p.Asp305GlyfsTer7 | |
| NM_001110792.2:c.1226dup MANE Select | NP_001104262.1:p.Asp410GlyfsTer7 | |
| NM_001316337.2:c.911dup | NP_001303266.1:p.Asp305GlyfsTer7 | |
| NM_001369391.2:c.911dup | NP_001356320.1:p.Asp305GlyfsTer7 | |
| NM_001369392.2:c.911dup | NP_001356321.1:p.Asp305GlyfsTer7 | |
| NM_001369393.2:c.911dup | NP_001356322.1:p.Asp305GlyfsTer7 | |
| NM_001369394.1:c.911dup | NP_001356323.1:p.Asp305GlyfsTer7 | |
| NM_001369394.2:c.911dup | NP_001356323.1:p.Asp305GlyfsTer7 | |
| NM_001386137.1:c.521dup | NP_001373066.1:p.Asp175GlyfsTer7 | |
| NM_001386138.1:c.521dup | NP_001373067.1:p.Asp175GlyfsTer7 | |
| NM_001386139.1:c.521dup | NP_001373068.1:p.Asp175GlyfsTer7 | |
| NM_004992.4:c.1190dup MANE Plus Clinical | NP_004983.1:p.Asp398GlyfsTer7 |