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:
3086
ClinVar RCV Id:
RCV000003232
dbSNP Id:
rs1569077723
gnomAD v3:
22-50625585-TGAA-T
gnomAD v4:
22-50625585-TGAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50625590_50625592del , CM000684.2:g.50625590_50625592del | GRCh38 |
| NC_000022.10:g.51064018_51064020del , CM000684.1:g.51064018_51064020del | GRCh37 |
| NC_000022.9:g.49410884_49410886del | NCBI36 |
| NG_009260.2:g.7592_7594del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216124.10:c.1201_1203del MANE Select | ENSP00000216124.5:p.Phe401del | |
| ENST00000216124.9:c.1201_1203del | ENSP00000216124.5:p.Phe401del | |
| ENST00000356098.9:c.1201_1203del | ENSP00000348406.5:p.Phe401del | |
| ENST00000395619.3:c.1201_1203del | ENSP00000378981.3:p.Phe401del | |
| ENST00000395621.7:c.1201_1203del | ENSP00000378983.3:p.Phe401del | |
| ENST00000453344.6:c.943_945del | ENSP00000412542.2:p.Phe315del | |
| ENST00000608497.1:c.69_71del | ||
| NM_000487.5:c.1201_1203del | NP_000478.3:p.Phe401del | |
| NM_001085425.2:c.1201_1203del | NP_001078894.2:p.Phe401del | |
| NM_001085426.2:c.1201_1203del | NP_001078895.2:p.Phe401del | |
| NM_001085427.2:c.1201_1203del | NP_001078896.2:p.Phe401del | |
| NM_001085428.2:c.943_945del | NP_001078897.1:p.Phe315del | |
| XM_011530690.1:c.943_945del | XP_011528992.1:p.Phe315del | |
| XM_011530691.1:c.1108-124_1108-122del | XP_011528993.1:n.1108-124_1108-122del | |
| NM_001362782.1:c.943_945del | NP_001349711.1:p.Phe315del | |
| XM_011530691.3:c.1108-124_1108-122del | XP_011528993.1:n.1108-124_1108-122del | |
| XM_017028800.1:c.1201_1203del | XP_016884289.1:p.Phe401del | |
| XM_024452241.1:c.1108-124_1108-122del | XP_024308009.1:n.1108-124_1108-122del | |
| NM_000487.6:c.1201_1203del MANE Select | NP_000478.3:p.Phe401del | |
| NM_001085425.3:c.1201_1203del | NP_001078894.2:p.Phe401del | |
| NM_001085426.3:c.1201_1203del | NP_001078895.2:p.Phe401del | |
| NM_001085427.3:c.1201_1203del | NP_001078896.2:p.Phe401del | |
| NM_001085428.3:c.943_945del | NP_001078897.1:p.Phe315del | |
| NM_001362782.2:c.943_945del | NP_001349711.1:p.Phe315del |