Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49431784_49431785insTGCCG , CM000668.2:g.49431784_49431785insTGCCG | GRCh38 |
| NC_000006.11:g.49399497_49399498insTGCCG , CM000668.1:g.49399497_49399498insTGCCG | GRCh37 |
| NC_000006.10:g.49507456_49507457insTGCCG | NCBI36 |
| NG_007100.1:g.36355_36356insCGGCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274813.4:c.2196_2197insCGGCA MANE Select | ENSP00000274813.3:p.Val733ArgfsTer27 | |
| ENST00000274813.3:c.2196_2197insCGGCA | ENSP00000274813.3:p.Val733ArgfsTer27 | |
| NM_000255.3:c.2196_2197insCGGCA | NP_000246.2:p.Val733ArgfsTer27 | |
| XM_005249143.2:c.2196_2197insCGGCA | XP_005249200.1:p.Val733ArgfsTer27 | |
| XM_005249143.3:c.2196_2197insCGGCA | XP_005249200.1:p.Val733ArgfsTer27 | |
| NM_000255.4:c.2196_2197insCGGCA MANE Select | NP_000246.2:p.Val733ArgfsTer27 |