SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Linked Data
dbSNP Id:
rs367543047
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.4699398_4699399insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC , CM000682.2:g.4699398_4699399insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | GRCh38 |
| NC_000020.10:g.4680044_4680045insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC , CM000682.1:g.4680044_4680045insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | GRCh37 |
| NC_000020.9:g.4628044_4628045insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | NCBI36 |
| NG_009087.1:g.18248_18249insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379440.9:c.178_179insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC MANE Select | ENSP00000368752.4:p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGln... | |
| ENST00000424424.2:c.178_179insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | ENSP00000411599.2:p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGln... | |
| ENST00000457586.2:c.178_179insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | ENSP00000415284.2:p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGln... | |
| ENST00000379440.8:c.178_179insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | ENSP00000368752.4:p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGln... | |
| ENST00000424424.1:c.178_179insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | ENSP00000411599.1:p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGln... | |
| ENST00000430350.2:c.178_179insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | ENSP00000399376.2:p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGln... | |
| ENST00000457586.1:c.178_179insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | ENSP00000415284.1:p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGln... | |
| NM_000311.3:c.178_179insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | NP_000302.1:p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGly... | |
| NM_001080121.1:c.178_179insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | NP_001073590.1:p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnGly... | |
| NM_001080122.1:c.178_179insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | NP_001073591.1:p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnGly... | |
| NM_001080123.1:c.178_179insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | NP_001073592.1:p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnGly... | |
| NM_001271561.1:c.89_90insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | NP_001258490.1:p.Ala30_Ser31insGlyArgTrpTrpLeuGlyAlaAlaGlyArg... | |
| NM_183079.2:c.178_179insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | NP_898902.1:p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGly... | |
| NM_000311.4:c.178_179insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | NP_000302.1:p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGly... | |
| NM_001080121.2:c.178_179insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | NP_001073590.1:p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnGly... | |
| NM_001080122.2:c.178_179insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | NP_001073591.1:p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnGly... | |
| NM_001080123.2:c.178_179insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | NP_001073592.1:p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnGly... | |
| NM_001271561.2:c.89_90insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | NP_001258490.1:p.Ala30_Ser31insGlyArgTrpTrpLeuGlyAlaAlaGlyArg... | |
| NM_183079.3:c.178_179insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | NP_898902.1:p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGly... | |
| NM_000311.5:c.178_179insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC MANE Select | NP_000302.1:p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGly... | |
| NM_001080121.3:c.178_179insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | NP_001073590.1:p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnGly... | |
| NM_001080122.3:c.178_179insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | NP_001073591.1:p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnGly... | |
| NM_001080123.3:c.178_179insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | NP_001073592.1:p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnGly... | |
| NM_001271561.3:c.89_90insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | NP_001258490.1:p.Ala30_Ser31insGlyArgTrpTrpLeuGlyAlaAlaGlyArg... | |
| NM_183079.4:c.178_179insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | NP_898902.1:p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGly... |