Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67436259_67436260delinsGA , CM000678.2:g.67436259_67436260delinsGA | GRCh38 |
| NC_000016.9:g.67470162_67470163delinsGA , CM000678.1:g.67470162_67470163delinsGA | GRCh37 |
| NC_000016.8:g.66027663_66027664delinsGA | NCBI36 |
| NG_011482.1:g.49927_49928delinsTC | |
| NG_016549.1:g.10127_10128delinsGA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000326152.6:c.675_676delinsGA MANE Select | ENSP00000316786.5:p.Tyr226Asn | |
| ENST00000326152.5:c.675_676delinsGA | ENSP00000316786.5:p.Tyr226Asn | |
| ENST00000567684.2:n.538_539delinsGA | ||
| NM_000196.3:c.675_676delinsGA | NP_000187.3:p.Tyr226Asn | |
| NM_000196.4:c.675_676delinsGA MANE Select | NP_000187.3:p.Tyr226Asn |