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:
503873
ClinVar RCV Id:
RCV000598990
dbSNP Id:
rs765915512
ExAC:
8:96057850 TCTTTA / T
gnomAD v2:
8-96057850-TCTTTA-T
gnomAD v3:
8-95045622-TCTTTA-T
gnomAD v4:
8-95045622-TCTTTA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.95045626_95045630del , CM000670.2:g.95045626_95045630del | GRCh38 |
| NC_000008.10:g.96057854_96057858del , CM000670.1:g.96057854_96057858del | GRCh37 |
| NC_000008.9:g.96127030_96127034del | NCBI36 |
| NG_016647.1:g.25634_25638del | |
| NG_016647.2:g.155356_155360del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000519804.2:c.*353_*357del | ENSP00000430230.2:n.*353_*357del | |
| ENST00000697355.1:c.*329_*333del | ENSP00000513277.1:n.*329_*333del | |
| ENST00000697364.1:c.283_287del | ENSP00000513278.1:p.Tyr95AsnfsTer? | |
| ENST00000396124.9:c.559_563del MANE Select | ENSP00000379430.4:p.Tyr187AsnfsTer? | |
| ENST00000396111.6:c.283_287del | ENSP00000379417.1:p.Tyr95AsnfsTer? | |
| ENST00000396113.5:c.283_287del | ENSP00000379419.1:p.Tyr95AsnfsTer? | |
| ENST00000396124.8:c.559_563del | ENSP00000379430.4:p.Tyr187AsnfsTer? | |
| ENST00000454358.6:c.504_508del | ||
| ENST00000517976.5:c.744_748del | ENSP00000430099.1:n.744_748del | |
| ENST00000518258.5:c.*534_*538del | ENSP00000428788.1:n.*534_*538del | |
| ENST00000518608.5:c.519_523del | ||
| ENST00000519136.5:c.226_230del | ENSP00000429585.1:p.Tyr76AsnfsTer? | |
| ENST00000519804.1:c.226_230del | ENSP00000430230.1:p.Tyr76AsnfsTer? | |
| ENST00000520632.5:c.782_786del | ENSP00000428666.1:n.782_786del | |
| ENST00000520757.1:c.624_628del | ||
| ENST00000523337.5:c.*312_*316del | ENSP00000429038.1:n.*312_*316del | |
| ENST00000523378.5:c.283_287del | ENSP00000428034.1:p.Tyr95AsnfsTer? | |
| NM_152416.3:c.559_563del | NP_689629.2:p.Tyr187AsnfsTer? | |
| XM_005250789.1:c.283_287del | XP_005250846.1:p.Tyr95AsnfsTer? | |
| XM_005250790.1:c.226_230del | XP_005250847.1:p.Tyr76AsnfsTer? | |
| XM_005250791.1:c.103_107del | XP_005250848.1:p.Tyr35AsnfsTer? | |
| XM_005250792.1:c.103_107del | XP_005250849.1:p.Tyr35AsnfsTer? | |
| XM_005250793.1:c.103_107del | XP_005250850.1:p.Tyr35AsnfsTer? | |
| XM_011516833.1:c.403_407del | XP_011515135.1:p.Tyr135AsnfsTer? | |
| XM_011516834.1:c.403_407del | XP_011515136.1:p.Tyr135AsnfsTer? | |
| XM_011516835.1:c.403_407del | XP_011515137.1:p.Tyr135AsnfsTer? | |
| XM_011516836.1:c.403_407del | XP_011515138.1:p.Tyr135AsnfsTer? | |
| XM_011516837.1:c.403_407del | XP_011515139.1:p.Tyr135AsnfsTer? | |
| XM_011516838.1:c.403_407del | XP_011515140.1:p.Tyr135AsnfsTer? | |
| XM_011516839.1:c.403_407del | XP_011515141.1:p.Tyr135AsnfsTer? | |
| XM_011516840.1:c.403_407del | XP_011515142.1:p.Tyr135AsnfsTer? | |
| XM_011516841.1:c.403_407del | XP_011515143.1:p.Tyr135AsnfsTer? | |
| XM_011516842.1:c.403_407del | XP_011515144.1:p.Tyr135AsnfsTer? | |
| XM_011516843.1:c.283_287del | XP_011515145.1:p.Tyr95AsnfsTer? | |
| XM_011516844.1:c.226_230del | XP_011515146.1:p.Tyr76AsnfsTer? | |
| NM_001330582.1:c.283_287del | NP_001317511.1:p.Tyr95AsnfsTer? | |
| NM_001354514.1:c.283_287del | NP_001341443.1:p.Tyr95AsnfsTer? | |
| NM_001354515.1:c.283_287del | NP_001341444.1:p.Tyr95AsnfsTer? | |
| NM_001354516.1:c.403_407del | NP_001341445.1:p.Tyr135AsnfsTer? | |
| NM_001354517.1:c.226_230del | NP_001341446.1:p.Tyr76AsnfsTer? | |
| NM_001354518.1:c.226_230del | NP_001341447.1:p.Tyr76AsnfsTer? | |
| NM_001354519.1:c.226_230del | NP_001341448.1:p.Tyr76AsnfsTer? | |
| NM_001354521.1:c.283_287del | NP_001341450.1:p.Tyr95AsnfsTer? | |
| NM_001354522.1:c.103_107del | NP_001341451.1:p.Tyr35AsnfsTer? | |
| NM_001354524.1:c.103_107del | NP_001341453.1:p.Tyr35AsnfsTer? | |
| NM_001354525.1:c.103_107del | NP_001341454.1:p.Tyr35AsnfsTer? | |
| NM_001354527.1:c.103_107del | NP_001341456.1:p.Tyr35AsnfsTer? | |
| NM_001354528.1:c.103_107del | NP_001341457.1:p.Tyr35AsnfsTer? | |
| NM_001354529.1:c.103_107del | NP_001341458.1:p.Tyr35AsnfsTer? | |
| NM_001354530.1:c.103_107del | NP_001341459.1:p.Tyr35AsnfsTer? | |
| NM_001354531.1:c.103_107del | NP_001341460.1:p.Tyr35AsnfsTer? | |
| NM_001354532.1:c.103_107del | NP_001341461.1:p.Tyr35AsnfsTer? | |
| NM_001354533.1:c.103_107del | NP_001341462.1:p.Tyr35AsnfsTer? | |
| NM_001354534.1:c.226_230del | NP_001341463.1:p.Tyr76AsnfsTer? | |
| NR_148910.1:n.712_716del | ||
| NR_148911.1:n.712_716del | ||
| NR_148912.1:n.716_720del | ||
| NR_148913.1:n.593_597del | ||
| NR_148914.1:n.790_794del | ||
| NR_148915.1:n.717_721del | ||
| XM_005250792.2:c.103_107del | XP_005250849.1:p.Tyr35AsnfsTer? | |
| XM_005250793.3:c.103_107del | XP_005250850.1:p.Tyr35AsnfsTer? | |
| XM_011516833.2:c.403_407del | XP_011515135.1:p.Tyr135AsnfsTer? | |
| XM_011516834.2:c.403_407del | XP_011515136.1:p.Tyr135AsnfsTer? | |
| XM_011516835.2:c.403_407del | XP_011515137.1:p.Tyr135AsnfsTer? | |
| XM_011516836.2:c.403_407del | XP_011515138.1:p.Tyr135AsnfsTer? | |
| XM_011516837.2:c.403_407del | XP_011515139.1:p.Tyr135AsnfsTer? | |
| XM_011516838.2:c.403_407del | XP_011515140.1:p.Tyr135AsnfsTer? | |
| XM_011516839.2:c.403_407del | XP_011515141.1:p.Tyr135AsnfsTer? | |
| XM_011516840.2:c.403_407del | XP_011515142.1:p.Tyr135AsnfsTer? | |
| XM_011516841.2:c.403_407del | XP_011515143.1:p.Tyr135AsnfsTer? | |
| XM_011516842.2:c.403_407del | XP_011515144.1:p.Tyr135AsnfsTer? | |
| XM_017013027.2:c.403_407del | XP_016868516.1:p.Tyr135AsnfsTer? | |
| XM_017013028.1:c.403_407del | XP_016868517.1:p.Tyr135AsnfsTer? | |
| XM_017013029.1:c.403_407del | XP_016868518.1:p.Tyr135AsnfsTer? | |
| XM_017013033.2:c.283_287del | XP_016868522.1:p.Tyr95AsnfsTer? | |
| XM_017013034.1:c.226_230del | XP_016868523.1:p.Tyr76AsnfsTer? | |
| XM_024447062.1:c.226_230del | XP_024302830.1:p.Tyr76AsnfsTer? | |
| NM_152416.4:c.559_563del MANE Select | NP_689629.2:p.Tyr187AsnfsTer? | |
| NR_148913.2:n.579_583del | ||
| NR_148914.2:n.776_780del | ||
| NM_001330582.2:c.283_287del | NP_001317511.1:p.Tyr95AsnfsTer? | |
| NM_001354514.2:c.283_287del | NP_001341443.1:p.Tyr95AsnfsTer? | |
| NM_001354515.2:c.283_287del | NP_001341444.1:p.Tyr95AsnfsTer? | |
| NM_001354516.2:c.403_407del | NP_001341445.1:p.Tyr135AsnfsTer? | |
| NM_001354517.2:c.226_230del | NP_001341446.1:p.Tyr76AsnfsTer? | |
| NM_001354518.2:c.226_230del | NP_001341447.1:p.Tyr76AsnfsTer? | |
| NM_001354519.2:c.226_230del | NP_001341448.1:p.Tyr76AsnfsTer? | |
| NM_001354521.2:c.283_287del | NP_001341450.1:p.Tyr95AsnfsTer? | |
| NM_001354522.2:c.103_107del | NP_001341451.1:p.Tyr35AsnfsTer? | |
| NM_001354524.2:c.103_107del | NP_001341453.1:p.Tyr35AsnfsTer? | |
| NM_001354525.2:c.103_107del | NP_001341454.1:p.Tyr35AsnfsTer? | |
| NM_001354527.2:c.103_107del | NP_001341456.1:p.Tyr35AsnfsTer? | |
| NM_001354528.2:c.103_107del | NP_001341457.1:p.Tyr35AsnfsTer? | |
| NM_001354529.2:c.103_107del | NP_001341458.1:p.Tyr35AsnfsTer? | |
| NM_001354530.2:c.103_107del | NP_001341459.1:p.Tyr35AsnfsTer? | |
| NM_001354531.2:c.103_107del | NP_001341460.1:p.Tyr35AsnfsTer? | |
| NM_001354532.2:c.103_107del | NP_001341461.1:p.Tyr35AsnfsTer? | |
| NM_001354533.2:c.103_107del | NP_001341462.1:p.Tyr35AsnfsTer? | |
| NM_001354534.2:c.226_230del | NP_001341463.1:p.Tyr76AsnfsTer? | |
| NR_148910.2:n.698_702del | ||
| NR_148911.2:n.698_702del | ||
| NR_148912.2:n.702_706del | ||
| NR_148915.2:n.703_707del |