Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94021394_94021399delinsAGGA , CM000663.2:g.94021394_94021399delinsAGGA | GRCh38 |
| NC_000001.10:g.94486950_94486955delinsAGGA , CM000663.1:g.94486950_94486955delinsAGGA | GRCh37 |
| NC_000001.9:g.94259538_94259543delinsAGGA | NCBI36 |
| NG_009073.1:g.104751_104756delinsTCCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4859_4864delinsTCCT MANE Select | ENSP00000359245.3:p.Asn1620IlefsTer25 | |
| ENST00000370225.3:c.4859_4864delinsTCCT | ENSP00000359245.3:p.Asn1620IlefsTer25 | |
| ENST00000460514.1:n.353_358delinsTCCT | ||
| ENST00000536513.5:c.1235_1240delinsTCCT | ENSP00000439707.2:p.Asn412IlefsTer25 | |
| NM_000350.2:c.4859_4864delinsTCCT | NP_000341.2:p.Asn1620IlefsTer25 | |
| NM_000350.3:c.4859_4864delinsTCCT MANE Select | NP_000341.2:p.Asn1620IlefsTer25 |