Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24178393_24178394delinsAT , CM000668.2:g.24178393_24178394delinsAT | GRCh38 |
| NC_000006.11:g.24178621_24178622delinsAT , CM000668.1:g.24178621_24178622delinsAT | GRCh37 |
| NC_000006.10:g.24286600_24286601delinsAT | NCBI36 |
| NG_012829.1:g.184659_184660delinsAT | |
| NG_012829.2:g.209899_209900delinsAT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378454.8:c.1262_1263delinsAT MANE Select | ENSP00000367715.3:p.Asn421= | |
| ENST00000378450.6:c.521_522delinsAT | ENSP00000367711.3:p.Asn174= | |
| ENST00000378454.7:c.1262_1263delinsAT | ENSP00000367715.3:p.Asn421= | |
| NM_001195610.1:c.1262_1263delinsAT | NP_001182539.1:p.Asn421= | |
| NM_016356.4:c.1262_1263delinsAT | NP_057440.2:p.Asn421= | |
| NM_016356.5:c.1262_1263delinsAT MANE Select | NP_057440.2:p.Asn421= | |
| NM_001195610.2:c.1262_1263delinsAT | NP_001182539.1:p.Asn421= |