Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767566_28767567delinsAC , CM000676.2:g.28767566_28767567delinsAC | GRCh38 |
| NC_000014.8:g.29236772_29236773delinsAC , CM000676.1:g.29236772_29236773delinsAC | GRCh37 |
| NC_000014.7:g.28306523_28306524delinsAC | NCBI36 |
| NG_009367.1:g.5486_5487delinsAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.287_288delinsAC | ENSP00000516406.1:p.Asp96= | |
| ENST00000313071.7:c.287_288delinsAC MANE Select | ENSP00000339004.3:p.Asp96= | |
| ENST00000313071.6:c.287_288delinsAC | ENSP00000339004.3:p.Asp96= | |
| NM_005249.4:c.287_288delinsAC | NP_005240.3:p.Asp96= | |
| NM_005249.5:c.287_288delinsAC MANE Select | NP_005240.3:p.Asp96= |