Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138946024_138946025dup , CM000665.2:g.138946024_138946025dup | GRCh38 |
| NC_000003.11:g.138664866_138664867dup , CM000665.1:g.138664866_138664867dup | GRCh37 |
| NC_000003.10:g.140147556_140147557dup | NCBI36 |
| NG_012454.1:g.6116_6117dup | |
| NG_029796.1:g.3791_3792dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.698_699dup MANE Select | ENSP00000497217.1:p.Ala234ProfsTer? | |
| ENST00000330315.3:c.698_699dup | ENSP00000333188.3:p.Ala234ProfsTer? | |
| NM_023067.3:c.698_699dup | NP_075555.1:p.Ala234ProfsTer? | |
| NM_023067.4:c.698_699dup MANE Select | NP_075555.1:p.Ala234ProfsTer? |