Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26135270_26135271insCC , CM000664.2:g.26135270_26135271insCC | GRCh38 |
| NC_000002.11:g.26358139_26358140insCC , CM000664.1:g.26358139_26358140insCC | GRCh37 |
| NC_000002.10:g.26211643_26211644insCC | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264710.5:c.*249_*250insCC MANE Select | ENSP00000264710.4:n.*249_*250insCC | |
| ENST00000264710.4:c.*249_*250insCC | ENSP00000264710.4:n.*249_*250insCC | |
| ENST00000495146.5:n.1215_1216insCC | ||
| NM_016131.4:c.*249_*250insCC | NP_057215.3:n.*249_*250insCC | |
| XM_024452565.1:c.*249_*250insCC | XP_024308333.1:n.*249_*250insCC | |
| NM_016131.5:c.*249_*250insCC MANE Select | NP_057215.3:n.*249_*250insCC |