Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67740273_67740274delinsGA , CM000666.2:g.67740273_67740274delinsGA | GRCh38 |
| NC_000004.11:g.68605991_68605992delinsGA , CM000666.1:g.68605991_68605992delinsGA | GRCh37 |
| NC_000004.10:g.68288586_68288587delinsGA | NCBI36 |
| NG_009293.1:g.20813_20814delinsTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.*206_*207delinsTC MANE Select | ENSP00000226413.5:n.*206_*207delinsTC | |
| ENST00000226413.4:c.*206_*207delinsTC | ENSP00000226413.4:n.*206_*207delinsTC | |
| NM_000406.2:c.*206_*207delinsTC | NP_000397.1:n.*206_*207delinsTC | |
| NM_001012763.1:c.*315_*316delinsTC | NP_001012781.1:n.*315_*316delinsTC | |
| NM_000406.3:c.*206_*207delinsTC MANE Select | NP_000397.1:n.*206_*207delinsTC | |
| NM_001012763.2:c.*315_*316delinsTC | NP_001012781.1:n.*315_*316delinsTC |