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:
177815
dbSNP Id:
rs111033388
gnomAD v2:
11-76925703-G-GCCATGAGCAAACAGCGGGGCT
gnomAD v3:
11-77214658-G-GCCATGAGCAAACAGCGGGGCT
gnomAD v4:
11-77214658-G-GCCATGAGCAAACAGCGGGGCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77214662_77214682dup , CM000673.2:g.77214662_77214682dup | GRCh38 |
| NC_000011.9:g.76925707_76925727dup , CM000673.1:g.76925707_76925727dup | GRCh37 |
| NC_000011.8:g.76603355_76603375dup | NCBI36 |
| NG_009086.1:g.91398_91418dup | |
| NG_009086.2:g.91417_91437dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409709.9:c.6614_6634dup MANE Select | ENSP00000386331.3:p.Ser2211_Arg2212insMet... | |
| ENST00000670577.1:c.4415_4435dup | ||
| ENST00000409619.6:c.6467_6487dup | ENSP00000386635.2:p.Ser2162_Arg2163insMet... | |
| ENST00000409709.7:c.6614_6634dup | ENSP00000386331.3:p.Ser2211_Arg2212insMet... | |
| ENST00000458169.2:c.4040_4060dup | ENSP00000417017.2:p.Ser1353_Arg1354insMet... | |
| ENST00000458637.6:c.6494_6514dup | ENSP00000392185.2:p.Ser2171_Arg2172insMet... | |
| ENST00000481328.7:n.5164_5184dup | ||
| ENST00000605744.1:n.2128_2148dup | ||
| NM_000260.3:c.6614_6634dup | NP_000251.3:p.Ser2211_Arg2212insMetSerLys... | |
| NM_001127180.1:c.6494_6514dup | NP_001120652.1:p.Ser2171_Arg2172insMetSer... | |
| XM_005274012.2:c.6497_6517dup | XP_005274069.1:p.Ser2172_Arg2173insMetSer... | |
| XM_006718561.2:c.6500_6520dup | XP_006718624.1:p.Ser2173_Arg2174insMetSer... | |
| XR_949941.1:n.6908_6928dup | ||
| XM_017017780.1:c.6704_6724dup | XP_016873269.1:p.Ser2241_Arg2242insMetSer... | |
| XM_017017784.1:c.6587_6607dup | XP_016873273.1:p.Ser2202_Arg2203insMetSer... | |
| XM_017017788.1:c.6590_6610dup | XP_016873277.1:p.Ser2203_Arg2204insMetSer... | |
| XR_001747885.1:n.6693_6713dup | ||
| XR_001747887.1:n.6679_6699dup | ||
| NM_000260.4:c.6614_6634dup MANE Select | NP_000251.3:p.Ser2211_Arg2212insMetSerLys... | |
| NM_001127180.2:c.6494_6514dup | NP_001120652.1:p.Ser2171_Arg2172insMetSer... | |
| NM_001369365.1:c.6467_6487dup | NP_001356294.1:p.Ser2162_Arg2163insMetSer... |