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:
177698
dbSNP Id:
rs730880336
ExAC:
11:47367805 A / ATGCCG
gnomAD v2:
11-47367805-A-ATGCCG
MyVariant Identifiers:
chr11:g.47367806_47367810dupTGCCG (hg19)
chr11:g.47367805_47367806insTGCCG (hg19)
chr11:g.47346255_47346259dupTGCCG (hg38)
chr11:g.47346254_47346255insTGCCG (hg38)
PubMed:
PMID:16061003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47346255_47346259dup , CM000673.2:g.47346255_47346259dup | GRCh38 |
| NC_000011.9:g.47367806_47367810dup , CM000673.1:g.47367806_47367810dup | GRCh37 |
| NC_000011.8:g.47324382_47324386dup | NCBI36 |
| NG_007667.1:g.11444_11448dup , LRG_386:g.11444_11448dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545968.6:c.1038_1042dup MANE Select | ENSP00000442795.1:p.Met348ThrfsTer4 | |
| ENST00000256993.8:c.1038_1042dup | ENSP00000256993.5:p.Met348ThrfsTer4 | |
| ENST00000399249.6:c.1038_1042dup | ENSP00000382193.2:p.Met348ThrfsTer4 | |
| ENST00000544791.1:c.1038_1042dup | ENSP00000444259.1:p.Met348ThrfsTer4 | |
| ENST00000545968.5:c.1038_1042dup | ENSP00000442795.1:p.Met348ThrfsTer4 | |
| NM_000256.3:c.1038_1042dup , LRG_386t1:c.1038_1042dup MANE Select | NP_000247.2:p.Met348ThrfsTer4 | |
| XM_011520117.1:c.1020_1024dup | XP_011518419.1:p.Met342ThrfsTer4 | |
| XM_011520118.1:c.1038_1042dup | XP_011518420.1:p.Met348ThrfsTer4 |