Linked Data
dbSNP Id:
rs762193348
MyVariant Identifiers:
chr16:g.8941620_8941621insCAATGGTGGAATGTCATCAGTTAAGGCTATTTTTACTTCTTTTGTGGATCT (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8847763_8847764insCAATGGTGGAATGTCATCAGTTAAGGCTATTTTTACTTCTTTTGTGGATCT , CM000678.2:g.8847763_8847764insCAATGGTGGAATGTCATCAGTTAAGGCTATTTTTACTTCTTTTGTGGATCT | GRCh38 |
| NC_000016.9:g.8941620_8941621insCAATGGTGGAATGTCATCAGTTAAGGCTATTTTTACTTCTTTTGTGGATCT , CM000678.1:g.8941620_8941621insCAATGGTGGAATGTCATCAGTTAAGGCTATTTTTACTTCTTTTGTGGATCT | GRCh37 |
| NC_000016.8:g.8849121_8849122insCAATGGTGGAATGTCATCAGTTAAGGCTATTTTTACTTCTTTTGTGGATCT | NCBI36 |
| NG_009209.1:g.54951_54952insCAATGGTGGAATGTCATCAGTTAAGGCTATTTTTACTTCTTTTGTGGATCT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000567697.2:n.3847_3848insCAATGGTGGAATGTCATCAGTTAAGGCTATTTTTACTTCTTTTGTGGATCT | ||
| ENST00000682393.1:c.*258-1606_*258-1605insCAATGGTGGAATGTCATCAGTTAAGGCTATTTTTACTTCTTTTGTGGATCT | ENSP00000506774.1:n.*258-1606_*258-1605in... | |
| ENST00000683094.1:c.*262-1606_*262-1605insCAATGGTGGAATGTCATCAGTTAAGGCTATTTTTACTTCTTTTGTGGATCT | ENSP00000508230.1:n.*262-1606_*262-1605in... | |
| ENST00000683274.1:c.*180-1606_*180-1605insCAATGGTGGAATGTCATCAGTTAAGGCTATTTTTACTTCTTTTGTGGATCT | ENSP00000507262.1:n.*180-1606_*180-1605in... | |
| ENST00000683435.1:c.*575_*576insCAATGGTGGAATGTCATCAGTTAAGGCTATTTTTACTTCTTTTGTGGATCT | ENSP00000508092.1:n.*575_*576insCAATGGTGG... | |
| ENST00000268261.9:c.679_680insCAATGGTGGAATGTCATCAGTTAAGGCTATTTTTACTTCTTTTGTGGATCT MANE Select | ENSP00000268261.4:p.Met227delinsThrMetVal... | |
| ENST00000268261.8:c.679_680insCAATGGTGGAATGTCATCAGTTAAGGCTATTTTTACTTCTTTTGTGGATCT | ENSP00000268261.4:p.Met227delinsThrMetVal... | |
| ENST00000562025.1:n.213_214insCAATGGTGGAATGTCATCAGTTAAGGCTATTTTTACTTCTTTTGTGGATCT | ||
| ENST00000562318.5:c.*401_*402insCAATGGTGGAATGTCATCAGTTAAGGCTATTTTTACTTCTTTTGTGGATCT | ENSP00000454395.1:n.*401_*402insCAATGGTGG... | |
| ENST00000565221.5:c.*297_*298insCAATGGTGGAATGTCATCAGTTAAGGCTATTTTTACTTCTTTTGTGGATCT | ENSP00000457932.1:n.*297_*298insCAATGGTGG... | |
| ENST00000566540.5:c.*301_*302insCAATGGTGGAATGTCATCAGTTAAGGCTATTTTTACTTCTTTTGTGGATCT | ENSP00000454284.1:n.*301_*302insCAATGGTGG... | |
| ENST00000566604.5:c.*219_*220insCAATGGTGGAATGTCATCAGTTAAGGCTATTTTTACTTCTTTTGTGGATCT | ENSP00000456774.1:n.*219_*220insCAATGGTGG... | |
| ENST00000566983.5:c.598_599insCAATGGTGGAATGTCATCAGTTAAGGCTATTTTTACTTCTTTTGTGGATCT | ENSP00000457956.1:p.Met200delinsThrMetVal... | |
| ENST00000567697.1:n.3847_3848insCAATGGTGGAATGTCATCAGTTAAGGCTATTTTTACTTCTTTTGTGGATCT | ||
| ENST00000569958.5:c.406_407insCAATGGTGGAATGTCATCAGTTAAGGCTATTTTTACTTCTTTTGTGGATCT | ENSP00000456302.1:p.Met136delinsThrMetVal... | |
| ENST00000570076.5:c.*137_*138insCAATGGTGGAATGTCATCAGTTAAGGCTATTTTTACTTCTTTTGTGGATCT | ENSP00000456961.1:n.*137_*138insCAATGGTGG... | |
| NM_000303.2:c.679_680insCAATGGTGGAATGTCATCAGTTAAGGCTATTTTTACTTCTTTTGTGGATCT | NP_000294.1:p.Met227delinsThrMetValGluCys... | |
| XM_005255374.3:c.430_431insCAATGGTGGAATGTCATCAGTTAAGGCTATTTTTACTTCTTTTGTGGATCT | XP_005255431.1:p.Met144delinsThrMetValGlu... | |
| XM_011522538.1:c.640-7271_640-7270insCAATGGTGGAATGTCATCAGTTAAGGCTATTTTTACTTCTTTTGTGGATCT | XP_011520840.1:n.640-7271_640-7270insCAAT... | |
| XM_005255374.4:c.430_431insCAATGGTGGAATGTCATCAGTTAAGGCTATTTTTACTTCTTTTGTGGATCT | XP_005255431.1:p.Met144delinsThrMetValGlu... | |
| NM_000303.3:c.679_680insCAATGGTGGAATGTCATCAGTTAAGGCTATTTTTACTTCTTTTGTGGATCT MANE Select | NP_000294.1:p.Met227delinsThrMetValGluCys... |