Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186194501_186194503delinsATT , CM000666.2:g.186194501_186194503delinsATT | GRCh38 |
| NC_000004.11:g.187115655_187115657delinsATT , CM000666.1:g.187115655_187115657delinsATT | GRCh37 |
| NC_000004.10:g.187352649_187352651delinsATT | NCBI36 |
| NG_007965.1:g.7982_7984delinsATT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378802.5:c.216_218delinsATT MANE Select | ENSP00000368079.4:p.Glu72= | |
| ENST00000378802.4:c.216_218delinsATT | ENSP00000368079.4:p.Glu72= | |
| NM_207352.3:c.216_218delinsATT | NP_997235.3:p.Glu72= | |
| XM_005262935.2:c.216_218delinsATT | XP_005262992.1:p.Glu72= | |
| XM_005262935.4:c.216_218delinsATT | XP_005262992.1:p.Glu72= | |
| XM_017008037.1:c.-95_-93delinsATT | XP_016863526.1:n.-95_-93delinsATT | |
| NM_207352.4:c.216_218delinsATT MANE Select | NP_997235.3:p.Glu72= |