Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.12117863_12117864insAT , CM000672.2:g.12117863_12117864insAT | GRCh38 |
| NC_000010.10:g.12159862_12159863insAT , CM000672.1:g.12159862_12159863insAT | GRCh37 |
| NC_000010.9:g.12199868_12199869insAT | NCBI36 |
| NG_033248.1:g.53947_53948insAT |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018706.7:c.2402+108_2402+109insAT MANE Select | NP_061176.4:n.2402+108_2402+109insAT |
| ENST00000263035.9:c.2402+108_2402+109insAT MANE Select | ENSP00000263035.4:n.2402+108_2402+109insAT |
| NM_018706.6:c.2402+108_2402+109insAT | NP_061176.3:n.2402+108_2402+109insAT |
| ENST00000263035.8:c.2402+108_2402+109insAT | ENSP00000263035.4:n.2402+108_2402+109insAT |