Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.9214462_9214463insCTCATCTTGAATTCCCATGTGTAAT , CM000681.2:g.9214462_9214463insCTCATCTTGAATTCCCATGTGTAAT | GRCh38 |
| NC_000019.9:g.9325138_9325139insCTCATCTTGAATTCCCATGTGTAAT , CM000681.1:g.9325138_9325139insCTCATCTTGAATTCCCATGTGTAAT | GRCh37 |
| NC_000019.8:g.9186138_9186139insCTCATCTTGAATTCCCATGTGTAAT | NCBI36 |
| NG_027953.1:g.5411_5412insTACACATGGGAATTCAAGATGAGAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641244.1:c.377_378insTACACATGGGAATTCAAGATGAGAT | ENSP00000493404.1:p.Cys127ThrfsTer7 | |
| ENST00000641669.1:c.377_378insTACACATGGGAATTCAAGATGAGAT MANE Select | ENSP00000493383.1:p.Cys127ThrfsTer7 | |
| ENST00000308682.3:c.377_378insTACACATGGGAATTCAAGATGAGAT | ENSP00000310488.2:p.Cys127ThrfsTer7 | |
| NM_001005191.2:c.377_378insTACACATGGGAATTCAAGATGAGAT | NP_001005191.1:p.Cys127ThrfsTer7 | |
| NM_001005191.3:c.377_378insTACACATGGGAATTCAAGATGAGAT MANE Select | NP_001005191.1:p.Cys127ThrfsTer7 |