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:
143379
dbSNP Id:
rs267608590
MyVariant Identifiers:
chrX:g.153296119_153296120delinsA (hg19)
chrX:g.154030668_154030669delinsA (hg38)
PubMed:
PMID:21878110
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154030668_154030669delinsA , CM000685.2:g.154030668_154030669delinsA | GRCh38 |
| NC_000023.10:g.153296119_153296120delinsA , CM000685.1:g.153296119_153296120delinsA | GRCh37 |
| NC_000023.9:g.152949313_152949314delinsA | NCBI36 |
| NG_007107.2:g.111459_111460delinsT | |
| NG_007107.3:g.111435_111436delinsT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303391.11:c.1159_1160delinsT MANE Plus Clinical | ENSP00000301948.6:p.Pro387SerfsTer22 | |
| ENST00000453960.7:c.1195_1196delinsT MANE Select | ENSP00000395535.2:p.Pro399SerfsTer22 | |
| ENST00000303391.10:c.1159_1160delinsT | ENSP00000301948.6:p.Pro387SerfsTer22 | |
| ENST00000407218.5:c.*531_*532delinsT | ENSP00000384865.2:n.*531_*532delinsT | |
| ENST00000453960.6:c.1195_1196delinsT | ENSP00000395535.2:p.Pro399SerfsTer22 | |
| ENST00000619732.4:c.1159_1160delinsT | ENSP00000480973.1:p.Pro387SerfsTer22 | |
| ENST00000628176.2:c.*531_*532delinsT | ENSP00000486978.1:n.*531_*532delinsT | |
| NM_001110792.1:c.1195_1196delinsT | NP_001104262.1:p.Pro399SerfsTer22 | |
| NM_001316337.1:c.880_881delinsT | NP_001303266.1:p.Pro294SerfsTer22 | |
| NM_004992.3:c.1159_1160delinsT | NP_004983.1:p.Pro387SerfsTer22 | |
| XM_005274681.3:c.1159_1160delinsT | XP_005274738.1:p.Pro387SerfsTer22 | |
| XM_005274682.3:c.880_881delinsT | XP_005274739.1:p.Pro294SerfsTer22 | |
| XM_005274683.3:c.880_881delinsT | XP_005274740.1:p.Pro294SerfsTer22 | |
| XM_006724819.2:c.490_491delinsT | XP_006724882.1:p.Pro164SerfsTer22 | |
| XM_011531166.1:c.880_881delinsT | XP_011529468.1:p.Pro294SerfsTer22 | |
| XM_006724819.3:c.490_491delinsT | XP_006724882.1:p.Pro164SerfsTer22 | |
| XM_011531166.2:c.880_881delinsT | XP_011529468.1:p.Pro294SerfsTer22 | |
| XM_024452383.1:c.880_881delinsT | XP_024308151.1:p.Pro294SerfsTer22 | |
| XM_024452384.1:c.880_881delinsT | XP_024308152.1:p.Pro294SerfsTer22 | |
| NM_001110792.2:c.1195_1196delinsT MANE Select | NP_001104262.1:p.Pro399SerfsTer22 | |
| NM_001316337.2:c.880_881delinsT | NP_001303266.1:p.Pro294SerfsTer22 | |
| NM_001369391.2:c.880_881delinsT | NP_001356320.1:p.Pro294SerfsTer22 | |
| NM_001369392.2:c.880_881delinsT | NP_001356321.1:p.Pro294SerfsTer22 | |
| NM_001369393.2:c.880_881delinsT | NP_001356322.1:p.Pro294SerfsTer22 | |
| NM_001369394.1:c.880_881delinsT | NP_001356323.1:p.Pro294SerfsTer22 | |
| NM_001369394.2:c.880_881delinsT | NP_001356323.1:p.Pro294SerfsTer22 | |
| NM_001386137.1:c.490_491delinsT | NP_001373066.1:p.Pro164SerfsTer22 | |
| NM_001386138.1:c.490_491delinsT | NP_001373067.1:p.Pro164SerfsTer22 | |
| NM_001386139.1:c.490_491delinsT | NP_001373068.1:p.Pro164SerfsTer22 | |
| NM_004992.4:c.1159_1160delinsT MANE Plus Clinical | NP_004983.1:p.Pro387SerfsTer22 |