Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67435531_67435532delinsAG , CM000678.2:g.67435531_67435532delinsAG | GRCh38 |
| NC_000016.9:g.67469434_67469435delinsAG , CM000678.1:g.67469434_67469435delinsAG | GRCh37 |
| NC_000016.8:g.66026935_66026936delinsAG | NCBI36 |
| NG_016549.1:g.9399_9400delinsAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326152.6:c.266-97_266-96delinsAG MANE Select | ENSP00000316786.5:n.266-97_266-96delinsAG | |
| ENST00000326152.5:c.266-97_266-96delinsAG | ENSP00000316786.5:n.266-97_266-96delinsAG | |
| ENST00000566606.1:c.149-2_149-1delinsAG | ENSP00000473429.1:n.149-2_149-1delinsAG | |
| ENST00000567684.2:n.129-97_129-96delinsAG | ||
| NM_000196.3:c.266-97_266-96delinsAG | NP_000187.3:n.266-97_266-96delinsAG | |
| NM_000196.4:c.266-97_266-96delinsAG MANE Select | NP_000187.3:n.266-97_266-96delinsAG |