Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42721868_42721872dup , CM000668.2:g.42721868_42721872dup | GRCh38 |
| NC_000006.11:g.42689606_42689610dup , CM000668.1:g.42689606_42689610dup | GRCh37 |
| NC_000006.10:g.42797584_42797588dup | NCBI36 |
| NG_009176.1:g.5749_5753dup | |
| NG_009176.2:g.5749_5753dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.463_467dup MANE Select | ENSP00000230381.5:p.Asp157ProfsTer? | |
| ENST00000230381.6:c.463_467dup | ENSP00000230381.5:p.Asp157ProfsTer? | |
| NM_000322.4:c.463_467dup | NP_000313.2:p.Asp157ProfsTer? | |
| XR_427834.2:n.1118_1122dup | ||
| XR_926295.1:n.1118_1122dup | ||
| XR_427834.4:n.1168_1172dup | ||
| XR_926295.3:n.1168_1172dup | ||
| NM_000322.5:c.463_467dup MANE Select | NP_000313.2:p.Asp157ProfsTer? |