Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.80675111_80675112delinsAT , CM000667.2:g.80675111_80675112delinsAT | GRCh38 |
| NC_000005.9:g.79970930_79970931delinsAT , CM000667.1:g.79970930_79970931delinsAT | GRCh37 |
| NC_000005.8:g.80006686_80006687delinsAT | NCBI36 |
| NG_016607.1:g.25637_25638delinsAT | |
| NG_016607.2:g.25637_25638delinsAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265081.7:c.1156_1157delinsAT MANE Select | ENSP00000265081.6:p.Ile386= | |
| ENST00000658259.1:c.988_989delinsAT | ENSP00000499617.1:p.Ile330= | |
| ENST00000667069.1:c.1156_1157delinsAT | ENSP00000499502.1:p.Ile386= | |
| ENST00000670357.1:c.1156_1157delinsAT | ENSP00000499791.1:p.Ile386= | |
| ENST00000265081.6:c.1156_1157delinsAT | ENSP00000265081.6:p.Ile386= | |
| NM_002439.4:c.1156_1157delinsAT | NP_002430.3:p.Ile386= | |
| NM_002439.5:c.1156_1157delinsAT MANE Select | NP_002430.3:p.Ile386= |