Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.109167140_109167141delinsGC , CM000671.2:g.109167140_109167141delinsGC | GRCh38 |
| NC_000009.11:g.111929420_111929421delinsGC , CM000671.1:g.111929420_111929421delinsGC | GRCh37 |
| NC_000009.10:g.110969241_110969242delinsGC | NCBI36 |
| NG_051235.1:g.5151_5152delinsGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561981.5:c.-3_-2delinsGC MANE Select | ENSP00000477141.2:n.-3_-2delinsGC | |
| ENST00000561981.2:c.151_152delinsGC | ENSP00000477141.1:p.Arg51Ala | |
| NM_014334.2:c.151_152delinsGC | NP_055149.2:p.Arg51Ala | |
| NM_014334.3:c.151_152delinsGC | NP_055149.2:p.Arg51Ala | |
| NM_014334.4:c.-3_-2delinsGC MANE Select | NP_055149.3:n.-3_-2delinsGC |