Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138945726_138945788delinsCGCCGCCGCC , CM000665.2:g.138945726_138945788delinsCGCCGCCGCC | GRCh38 |
| NC_000003.11:g.138664568_138664630delinsCGCCGCCGCC , CM000665.1:g.138664568_138664630delinsCGCCGCCGCC | GRCh37 |
| NC_000003.10:g.140147258_140147320delinsCGCCGCCGCC | NCBI36 |
| NG_012454.1:g.6353_6415delinsGGCGGCGGCG | |
| NG_029796.1:g.3493_3555delinsCGCCGCCGCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.935_997delinsGGCGGCGGCG MANE Select | ENSP00000497217.1:p.His312ArgfsTer? | |
| ENST00000330315.3:c.935_997delinsGGCGGCGGCG | ENSP00000333188.3:p.His312ArgfsTer? | |
| NM_023067.3:c.935_997delinsGGCGGCGGCG | NP_075555.1:p.His312ArgfsTer? | |
| NM_023067.4:c.935_997delinsGGCGGCGGCG MANE Select | NP_075555.1:p.His312ArgfsTer? |