Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.91055995_91055996delinsTG , CM000674.2:g.91055995_91055996delinsTG | GRCh38 |
| NC_000012.11:g.91449772_91449773delinsTG , CM000674.1:g.91449772_91449773delinsTG | GRCh37 |
| NC_000012.10:g.89973903_89973904delinsTG | NCBI36 |
| NG_021223.1:g.7359_7360delinsCA , LRG_538:g.7359_7360delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266719.4:c.286_287delinsCA MANE Select | ENSP00000266719.3:p.Gln96= | |
| ENST00000266719.3:c.286_287delinsCA | ENSP00000266719.3:p.Gln96= | |
| NM_007035.3:c.286_287delinsCA , LRG_538t1:c.286_287delinsCA | NP_008966.1:p.Gln96= | |
| XM_011537781.1:c.286_287delinsCA | XP_011536083.1:p.Gln96= | |
| NM_007035.4:c.286_287delinsCA MANE Select | NP_008966.1:p.Gln96= |