Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63971835_63971836insTCGGTGGTCGCCGTATCATTAAAAAAAAAAAAAG , CM000679.2:g.63971835_63971836insTCGGTGGTCGCCGTATCATTAAAAAAAAAAAAAG | GRCh38 |
| NC_000017.10:g.62049195_62049196insTCGGTGGTCGCCGTATCATTAAAAAAAAAAAAAG , CM000679.1:g.62049195_62049196insTCGGTGGTCGCCGTATCATTAAAAAAAAAAAAAG | GRCh37 |
| NC_000017.9:g.59402927_59402928insTCGGTGGTCGCCGTATCATTAAAAAAAAAAAAAG | NCBI36 |
| NG_011699.1:g.6083_6084insCTTTTTTTTTTTTTAATGATACGGCGACCACCGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.497_498insCTTTTTTTTTTTTTAATGATACGGCGACCACCGA MANE Select | ENSP00000396320.1:p.Ile167PhefsTer5 | |
| ENST00000578147.5:c.497_498insCTTTTTTTTTTTTTAATGATACGGCGACCACCGA | ENSP00000463963.1:p.Ile167PhefsTer5 | |
| NM_000334.4:c.497_498insCTTTTTTTTTTTTTAATGATACGGCGACCACCGA MANE Select | NP_000325.4:p.Ile167PhefsTer5 | |
| XM_005257566.3:c.497_498insCTTTTTTTTTTTTTAATGATACGGCGACCACCGA | XP_005257623.1:p.Ile167PhefsTer5 |