Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49016635_49016643del , CM000681.2:g.49016635_49016643del | GRCh38 |
| NC_000019.9:g.49519892_49519900del , CM000681.1:g.49519892_49519900del | GRCh37 |
| NC_000019.8:g.54211704_54211712del | NCBI36 |
| NG_011464.1:g.5449_5457del | |
| NG_033041.1:g.27737_27745del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000894.3:c.88_96del MANE Select | NP_000885.1:p.His30_Ile32del |
| ENST00000649238.3:c.88_96del MANE Select | ENSP00000497294.2:p.His30_Ile32del |
| NM_000894.2:c.88_96del | NP_000885.1:p.His30_Ile32del |
| ENST00000221421.6:c.88_96del | ENSP00000221421.1:p.His30_Ile32del |
| ENST00000391869.4:c.82_90del | ENSP00000375742.4:p.His28_Ile30del |
| ENST00000649284.1:n.179_187del | |
| XM_011526975.1:c.136_144del | XP_011525277.1:p.His46_Ile48del |