Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80276277_80276278delinsAC , CM000672.2:g.80276277_80276278delinsAC | GRCh38 |
| NC_000010.10:g.82036033_82036034delinsAC , CM000672.1:g.82036033_82036034delinsAC | GRCh37 |
| NC_000010.9:g.82026013_82026014delinsAC | NCBI36 |
| NG_008083.1:g.18401_18402delinsGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.768+98_768+99delinsGT MANE Select | ENSP00000361287.3:n.768+98_768+99delinsGT | |
| ENST00000372213.7:c.768+98_768+99delinsGT | ENSP00000361287.3:n.768+98_768+99delinsGT | |
| NM_000429.2:c.768+98_768+99delinsGT | NP_000420.1:n.768+98_768+99delinsGT | |
| XM_005269842.3:c.768+98_768+99delinsGT | XP_005269899.1:n.768+98_768+99delinsGT | |
| XM_005269843.3:c.645+98_645+99delinsGT | XP_005269900.1:n.645+98_645+99delinsGT | |
| NM_000429.3:c.768+98_768+99delinsGT MANE Select | NP_000420.1:n.768+98_768+99delinsGT |