Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49447800_49447801insC , CM000668.2:g.49447800_49447801insC | GRCh38 |
| NC_000006.11:g.49415513_49415514insC , CM000668.1:g.49415513_49415514insC | GRCh37 |
| NC_000006.10:g.49523472_49523473insC | NCBI36 |
| NG_007100.1:g.20339_20340insG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274813.4:c.1445-16_1445-15insG MANE Select | ENSP00000274813.3:n.1445-16_1445-15insG | |
| ENST00000274813.3:c.1445-16_1445-15insG | ENSP00000274813.3:n.1445-16_1445-15insG | |
| NM_000255.3:c.1445-16_1445-15insG | NP_000246.2:n.1445-16_1445-15insG | |
| XM_005249143.2:c.1445-16_1445-15insG | XP_005249200.1:n.1445-16_1445-15insG | |
| XM_005249143.3:c.1445-16_1445-15insG | XP_005249200.1:n.1445-16_1445-15insG | |
| NM_000255.4:c.1445-16_1445-15insG MANE Select | NP_000246.2:n.1445-16_1445-15insG |