Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177069_177070delinsAC , CM000678.2:g.177069_177070delinsAC | GRCh38 |
| NC_000016.9:g.227068_227069delinsAC , CM000678.1:g.227068_227069delinsAC | GRCh37 |
| NC_000016.8:g.167068_167069delinsAC | NCBI36 |
| NG_000006.1:g.37932_37933delinsAC | |
| NG_059186.1:g.5419_5420delinsAC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320868.9:c.236_237delinsAC MANE Select | ENSP00000322421.5:p.Asn79= | |
| ENST00000397797.1:c.140_141delinsAC | ENSP00000380899.1:p.Asn47= | |
| ENST00000472694.1:n.372_373delinsAC | ||
| ENST00000487791.1:n.205_206delinsAC | ||
| NM_000558.4:c.236_237delinsAC | NP_000549.1:p.Asn79= | |
| NM_000558.5:c.236_237delinsAC MANE Select | NP_000549.1:p.Asn79= |