Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63971848_63971849insCGA , CM000679.2:g.63971848_63971849insCGA | GRCh38 |
| NC_000017.10:g.62049208_62049209insCGA , CM000679.1:g.62049208_62049209insCGA | GRCh37 |
| NC_000017.9:g.59402940_59402941insCGA | NCBI36 |
| NG_011699.1:g.6070_6071insTCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.484_485insTCG MANE Select | ENSP00000396320.1:p.Tyr162delinsPheAsp | |
| ENST00000578147.5:c.484_485insTCG | ENSP00000463963.1:p.Tyr162delinsPheAsp | |
| NM_000334.4:c.484_485insTCG MANE Select | NP_000325.4:p.Tyr162delinsPheAsp | |
| XM_005257566.3:c.484_485insTCG | XP_005257623.1:p.Tyr162delinsPheAsp |