Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47836381_47836382delinsGT , CM000681.2:g.47836381_47836382delinsGT | GRCh38 |
| NC_000019.9:g.48339638_48339639delinsGT , CM000681.1:g.48339638_48339639delinsGT | GRCh37 |
| NC_000019.8:g.53031450_53031451delinsGT | NCBI36 |
| NG_008605.1:g.19540_19541delinsGT |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000554.6:c.239_240delinsGT MANE Select | NP_000545.1:p.Glu80Gly |
| ENST00000221996.12:c.239_240delinsGT MANE Select | ENSP00000221996.5:p.Glu80Gly |
| NM_000554.4:c.239_240delinsGT | NP_000545.1:p.Glu80Gly |
| NM_000554.5:c.239_240delinsGT | NP_000545.1:p.Glu80Gly |
| ENST00000221996.11:c.239_240delinsGT | ENSP00000221996.5:p.Glu80Gly |
| ENST00000539067.5:c.239_240delinsGT | ENSP00000445565.1:p.Glu80Gly |
| ENST00000613299.1:c.100+1838_100+1839delinsGT | ENSP00000478106.1:n.100+1838_100+1839delinsGT |