Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94974526_94974527delinsAT , CM000672.2:g.94974526_94974527delinsAT | GRCh38 |
| NC_000010.10:g.96734283_96734284delinsAT , CM000672.1:g.96734283_96734284delinsAT | GRCh37 |
| NC_000010.9:g.96724273_96724274delinsAT | NCBI36 |
| NG_008385.1:g.40869_40870delinsAT | |
| NG_008385.2:g.41369_41370delinsAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.961+2281_961+2282delinsAT MANE Select | ENSP00000260682.6:n.961+2281_961+2282delinsAT | |
| ENST00000643112.1:c.820-6657_820-6656delinsAT | ENSP00000496202.1:n.820-6657_820-6656delinsAT | |
| ENST00000260682.6:c.961+2281_961+2282delinsAT | ENSP00000260682.6:n.961+2281_961+2282delinsAT | |
| NM_000771.3:c.961+2281_961+2282delinsAT | NP_000762.2:n.961+2281_961+2282delinsAT | |
| NM_000771.4:c.961+2281_961+2282delinsAT MANE Select | NP_000762.2:n.961+2281_961+2282delinsAT |