Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.79916760_79916764delinsGTT , CM000668.2:g.79916760_79916764delinsGTT | GRCh38 |
| NC_000006.11:g.80626477_80626481delinsGTT , CM000668.1:g.80626477_80626481delinsGTT | GRCh37 |
| NC_000006.10:g.80683196_80683200delinsGTT | NCBI36 |
| NG_009108.1:g.35835_35839delinsAAC | |
| NG_009108.2:g.35835_35839delinsAAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369816.5:c.789_793delinsAAC MANE Select | ENSP00000358831.4:p.Asn264ThrfsTer10 | |
| ENST00000369816.4:c.789_793delinsAAC | ENSP00000358831.4:p.Asn264ThrfsTer10 | |
| NM_022726.3:c.789_793delinsAAC | NP_073563.1:p.Asn264ThrfsTer10 | |
| NM_022726.4:c.789_793delinsAAC MANE Select | NP_073563.1:p.Asn264ThrfsTer10 |