Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138945973_138945975delinsGCC , CM000665.2:g.138945973_138945975delinsGCC | GRCh38 |
| NC_000003.11:g.138664815_138664817delinsGCC , CM000665.1:g.138664815_138664817delinsGCC | GRCh37 |
| NC_000003.10:g.140147505_140147507delinsGCC | NCBI36 |
| NG_012454.1:g.6166_6168delinsGGC | |
| NG_029796.1:g.3740_3742delinsGCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.748_750delinsGGC MANE Select | ENSP00000497217.1:p.Gly250= | |
| ENST00000330315.3:c.748_750delinsGGC | ENSP00000333188.3:p.Gly250= | |
| NM_023067.3:c.748_750delinsGGC | NP_075555.1:p.Gly250= | |
| NM_023067.4:c.748_750delinsGGC MANE Select | NP_075555.1:p.Gly250= |