Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118932876_118932877delinsAC , CM000670.2:g.118932876_118932877delinsAC | GRCh38 |
| NC_000008.10:g.119945115_119945116delinsAC , CM000670.1:g.119945115_119945116delinsAC | GRCh37 |
| NC_000008.9:g.120014296_120014297delinsAC | NCBI36 |
| NG_012202.1:g.24268_24269delinsGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297350.9:c.400+54_400+55delinsGT MANE Select | ENSP00000297350.4:n.400+54_400+55delinsGT | |
| ENST00000297350.8:c.400+54_400+55delinsGT | ENSP00000297350.4:n.400+54_400+55delinsGT | |
| ENST00000517352.1:c.400+54_400+55delinsGT | ENSP00000427924.1:n.400+54_400+55delinsGT | |
| NM_002546.3:c.400+54_400+55delinsGT | NP_002537.3:n.400+54_400+55delinsGT | |
| NM_002546.4:c.400+54_400+55delinsGT MANE Select | NP_002537.3:n.400+54_400+55delinsGT |