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:
143703
ClinVar RCV Id:
RCV000133244
dbSNP Id:
rs267608529
PubMed:
PMID:19309283
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154031016_154031019del , CM000685.2:g.154031016_154031019del | GRCh38 |
| NC_000023.10:g.153296467_153296470del , CM000685.1:g.153296467_153296470del | GRCh37 |
| NC_000023.9:g.152949661_152949664del | NCBI36 |
| NG_007107.2:g.111110_111113del | |
| NG_007107.3:g.111086_111089del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303391.11:c.810_813del MANE Plus Clinical | ENSP00000301948.6:p.Lys271ArgfsTer17 | |
| ENST00000453960.7:c.846_849del MANE Select | ENSP00000395535.2:p.Lys283ArgfsTer17 | |
| ENST00000637917.1:c.66-82_66-79del | ||
| ENST00000303391.10:c.810_813del | ENSP00000301948.6:p.Lys271ArgfsTer17 | |
| ENST00000407218.5:c.*182_*185del | ENSP00000384865.2:n.*182_*185del | |
| ENST00000453960.6:c.846_849del | ENSP00000395535.2:p.Lys283ArgfsTer17 | |
| ENST00000619732.4:c.810_813del | ENSP00000480973.1:p.Lys271ArgfsTer17 | |
| ENST00000622433.4:c.798_801del | ENSP00000484470.1:p.Lys267ArgfsTer17 | |
| ENST00000628176.2:c.*182_*185del | ENSP00000486978.1:n.*182_*185del | |
| NM_001110792.1:c.846_849del | NP_001104262.1:p.Lys283ArgfsTer17 | |
| NM_001316337.1:c.531_534del | NP_001303266.1:p.Lys178ArgfsTer17 | |
| NM_004992.3:c.810_813del | NP_004983.1:p.Lys271ArgfsTer17 | |
| XM_005274681.3:c.810_813del | XP_005274738.1:p.Lys271ArgfsTer17 | |
| XM_005274682.3:c.531_534del | XP_005274739.1:p.Lys178ArgfsTer17 | |
| XM_005274683.3:c.531_534del | XP_005274740.1:p.Lys178ArgfsTer17 | |
| XM_006724819.2:c.141_144del | XP_006724882.1:p.Lys48ArgfsTer17 | |
| XM_011531166.1:c.531_534del | XP_011529468.1:p.Lys178ArgfsTer17 | |
| XM_006724819.3:c.141_144del | XP_006724882.1:p.Lys48ArgfsTer17 | |
| XM_011531166.2:c.531_534del | XP_011529468.1:p.Lys178ArgfsTer17 | |
| XM_024452383.1:c.531_534del | XP_024308151.1:p.Lys178ArgfsTer17 | |
| XM_024452384.1:c.531_534del | XP_024308152.1:p.Lys178ArgfsTer17 | |
| NM_001110792.2:c.846_849del MANE Select | NP_001104262.1:p.Lys283ArgfsTer17 | |
| NM_001316337.2:c.531_534del | NP_001303266.1:p.Lys178ArgfsTer17 | |
| NM_001369391.2:c.531_534del | NP_001356320.1:p.Lys178ArgfsTer17 | |
| NM_001369392.2:c.531_534del | NP_001356321.1:p.Lys178ArgfsTer17 | |
| NM_001369393.2:c.531_534del | NP_001356322.1:p.Lys178ArgfsTer17 | |
| NM_001369394.1:c.531_534del | NP_001356323.1:p.Lys178ArgfsTer17 | |
| NM_001369394.2:c.531_534del | NP_001356323.1:p.Lys178ArgfsTer17 | |
| NM_001386137.1:c.141_144del | NP_001373066.1:p.Lys48ArgfsTer17 | |
| NM_001386138.1:c.141_144del | NP_001373067.1:p.Lys48ArgfsTer17 | |
| NM_001386139.1:c.141_144del | NP_001373068.1:p.Lys48ArgfsTer17 | |
| NM_004992.4:c.810_813del MANE Plus Clinical | NP_004983.1:p.Lys271ArgfsTer17 |