Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767965_28767966delinsAA , CM000676.2:g.28767965_28767966delinsAA | GRCh38 |
| NC_000014.8:g.29237171_29237172delinsAA , CM000676.1:g.29237171_29237172delinsAA | GRCh37 |
| NC_000014.7:g.28306922_28306923delinsAA | NCBI36 |
| NG_009367.1:g.5885_5886delinsAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.686_687delinsAA | ENSP00000516406.1:p.Ile229Lys | |
| ENST00000313071.7:c.686_687delinsAA MANE Select | ENSP00000339004.3:p.Ile229Lys | |
| ENST00000313071.6:c.686_687delinsAA | ENSP00000339004.3:p.Ile229Lys | |
| NM_005249.4:c.686_687delinsAA | NP_005240.3:p.Ile229Lys | |
| NM_005249.5:c.686_687delinsAA MANE Select | NP_005240.3:p.Ile229Lys |