Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.91055915_91055918delinsACTT , CM000674.2:g.91055915_91055918delinsACTT | GRCh38 |
| NC_000012.11:g.91449692_91449695delinsACTT , CM000674.1:g.91449692_91449695delinsACTT | GRCh37 |
| NC_000012.10:g.89973823_89973826delinsACTT | NCBI36 |
| NG_021223.1:g.7437_7440delinsAAGT , LRG_538:g.7437_7440delinsAAGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266719.4:c.364_367delinsAAGT MANE Select | ENSP00000266719.3:p.Lys122= | |
| ENST00000266719.3:c.364_367delinsAAGT | ENSP00000266719.3:p.Lys122= | |
| NM_007035.3:c.364_367delinsAAGT , LRG_538t1:c.364_367delinsAAGT | NP_008966.1:p.Lys122= | |
| XM_011537781.1:c.364_367delinsAAGT | XP_011536083.1:p.Lys122= | |
| NM_007035.4:c.364_367delinsAAGT MANE Select | NP_008966.1:p.Lys122= |