Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140114269_140114274del , CM000667.2:g.140114269_140114274del | GRCh38 |
| NC_000005.9:g.139493854_139493859del , CM000667.1:g.139493854_139493859del | GRCh37 |
| NC_000005.8:g.139474038_139474043del | NCBI36 |
| NG_041813.1:g.5147_5152del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331327.5:c.88_93del MANE Select | ENSP00000332706.3:p.Ser30_Gly31del | |
| ENST00000505703.2:c.88_93del | ENSP00000498560.1:p.Ser30_Gly31del | |
| ENST00000651386.1:c.88_93del | ENSP00000499133.1:p.Ser30_Gly31del | |
| ENST00000331327.4:c.88_93del | ENSP00000332706.3:p.Ser30_Gly31del | |
| ENST00000505703.1:n.553_558del | ||
| NM_005859.4:c.88_93del | NP_005850.1:p.Ser30_Gly31del | |
| NM_005859.5:c.88_93del MANE Select | NP_005850.1:p.Ser30_Gly31del |