Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.76358748_76358749delinsTC , CM000669.2:g.76358748_76358749delinsTC | GRCh38 |
| NC_000007.13:g.75988065_75988066delinsTC , CM000669.1:g.75988065_75988066delinsTC | GRCh37 |
| NC_000007.12:g.75826001_75826002delinsTC | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307630.5:c.60_61delinsGA MANE Select | ENSP00000306330.3:p.Tyr20Ter | |
| ENST00000307630.4:c.60_61delinsGA | ENSP00000306330.3:p.Tyr20Ter | |
| NM_012479.3:c.60_61delinsGA | NP_036611.2:p.Tyr20Ter | |
| NM_012479.4:c.60_61delinsGA MANE Select | NP_036611.2:p.Tyr20Ter |