Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119320725_119320731delinsACAACTT , CM000666.2:g.119320725_119320731delinsACAACTT | GRCh38 |
| NC_000004.11:g.120241880_120241886delinsACAACTT , CM000666.1:g.120241880_120241886delinsACAACTT | GRCh37 |
| NC_000004.10:g.120461328_120461334delinsACAACTT | NCBI36 |
| NG_011444.1:g.6431_6437delinsAAGTTGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274024.4:c.179_185delinsAAGTTGT MANE Select | ENSP00000274024.3:p.Glu60= | |
| ENST00000274024.3:c.179_185delinsAAGTTGT | ENSP00000274024.3:p.Glu60= | |
| NM_000134.3:c.179_185delinsAAGTTGT | NP_000125.2:p.Glu60= | |
| NM_000134.4:c.179_185delinsAAGTTGT MANE Select | NP_000125.2:p.Glu60= |