dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3072306_3072307insAA , CM000682.2:g.3072306_3072307insAA | GRCh38 |
| NC_000020.10:g.3052952_3052953insAA , CM000682.1:g.3052952_3052953insAA | GRCh37 |
| NC_000020.9:g.3000952_3000953insAA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217386.2:c.322+28_322+29insAA MANE Select | ENSP00000217386.2:n.322+28_322+29insAA | |
| NM_000915.3:c.322+28_322+29insAA | NP_000906.1:n.322+28_322+29insAA | |
| XM_011529238.1:c.322+28_322+29insAA | XP_011527540.1:n.322+28_322+29insAA | |
| NM_000915.4:c.322+28_322+29insAA MANE Select | NP_000906.1:n.322+28_322+29insAA |