Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138945780_138945787dup , CM000665.2:g.138945780_138945787dup | GRCh38 |
| NC_000003.11:g.138664622_138664629dup , CM000665.1:g.138664622_138664629dup | GRCh37 |
| NC_000003.10:g.140147312_140147319dup | NCBI36 |
| NG_012454.1:g.6355_6362dup | |
| NG_029796.1:g.3547_3554dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.937_944dup MANE Select | ENSP00000497217.1:p.Ala316GlyfsTer? | |
| ENST00000330315.3:c.937_944dup | ENSP00000333188.3:p.Ala316GlyfsTer? | |
| NM_023067.3:c.937_944dup | NP_075555.1:p.Ala316GlyfsTer? | |
| NM_023067.4:c.937_944dup MANE Select | NP_075555.1:p.Ala316GlyfsTer? |