Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.172448274_172448279del , CM000665.2:g.172448274_172448279del | GRCh38 |
| NC_000003.11:g.172166064_172166069del , CM000665.1:g.172166064_172166069del | GRCh37 |
| NC_000003.10:g.173648758_173648763del | NCBI36 |
| NG_021159.1:g.5178_5183del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241256.3:c.135_140del MANE Select | ENSP00000241256.2:p.Val46_Thr47del | |
| ENST00000241256.2:c.135_140del | ENSP00000241256.2:p.Val46_Thr47del | |
| ENST00000427970.1:c.135_140del | ENSP00000395344.1:p.Val46_Thr47del | |
| NM_004122.2:c.135_140del | NP_004113.1:p.Val46_Thr47del | |
| NM_198407.2:c.135_140del MANE Select | NP_940799.1:p.Val46_Thr47del |