Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40098927_40098928delinsTA , CM000679.2:g.40098927_40098928delinsTA | GRCh38 |
| NC_000017.10:g.38255180_38255181delinsTA , CM000679.1:g.38255180_38255181delinsTA | GRCh37 |
| NC_000017.9:g.35508706_35508707delinsTA | NCBI36 |
| NG_033084.1:g.6798_6799delinsTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246672.4:c.31+1136_31+1137delinsTA MANE Select | ENSP00000246672.3:n.31+1136_31+1137delinsTA | |
| ENST00000246672.3:c.31+1136_31+1137delinsTA | ENSP00000246672.3:n.31+1136_31+1137delinsTA | |
| NM_021724.4:c.31+1136_31+1137delinsTA | NP_068370.1:n.31+1136_31+1137delinsTA | |
| NM_021724.5:c.31+1136_31+1137delinsTA MANE Select | NP_068370.1:n.31+1136_31+1137delinsTA |