Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5044813_5044814delinsAG , CM000674.2:g.5044813_5044814delinsAG | GRCh38 |
| NC_000012.11:g.5153979_5153980delinsAG , CM000674.1:g.5153979_5153980delinsAG | GRCh37 |
| NC_000012.10:g.5024240_5024241delinsAG | NCBI36 |
| NG_012198.1:g.5895_5896delinsAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.666_667delinsAG MANE Select | ENSP00000252321.3:p.Glu222= | |
| ENST00000252321.4:c.666_667delinsAG | ENSP00000252321.3:p.Glu222= | |
| NM_002234.3:c.666_667delinsAG | NP_002225.2:p.Glu222= | |
| NM_002234.4:c.666_667delinsAG MANE Select | NP_002225.2:p.Glu222= |