Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177385_177386delinsAC , CM000678.2:g.177385_177386delinsAC | GRCh38 |
| NC_000016.9:g.227384_227385delinsAC , CM000678.1:g.227384_227385delinsAC | GRCh37 |
| NC_000016.8:g.167384_167385delinsAC | NCBI36 |
| NG_000006.1:g.38248_38249delinsAC | |
| NG_059186.1:g.5735_5736delinsAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.403_404delinsAC MANE Select | ENSP00000322421.5:p.Thr135= | |
| ENST00000397797.1:c.307_308delinsAC | ENSP00000380899.1:p.Thr103= | |
| ENST00000472694.1:n.539_540delinsAC | ||
| NM_000558.4:c.403_404delinsAC | NP_000549.1:p.Thr135= | |
| NM_000558.5:c.403_404delinsAC MANE Select | NP_000549.1:p.Thr135= |