Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.192812051_192812059delinsAGTTCTTAT , CM000663.2:g.192812051_192812059delinsAGTTCTTAT | GRCh38 |
| NC_000001.10:g.192781181_192781189delinsAGTTCTTAT , CM000663.1:g.192781181_192781189delinsAGTTCTTAT | GRCh37 |
| NC_000001.9:g.191047804_191047812delinsAGTTCTTAT | NCBI36 |
| NG_012800.1:g.8013_8021delinsAGTTCTTAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235382.7:c.*455_*463delinsAGTTCTTAT MANE Select | ENSP00000235382.5:n.*455_*463delinsAGTTCTTAT | |
| ENST00000235382.6:c.*455_*463delinsAGTTCTTAT | ENSP00000235382.5:n.*455_*463delinsAGTTCTTAT | |
| NM_002923.3:c.*455_*463delinsAGTTCTTAT | NP_002914.1:n.*455_*463delinsAGTTCTTAT | |
| NM_002923.4:c.*455_*463delinsAGTTCTTAT MANE Select | NP_002914.1:n.*455_*463delinsAGTTCTTAT |