Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21176817_21176818delinsAT , CM000674.2:g.21176817_21176818delinsAT | GRCh38 |
| NC_000012.11:g.21329751_21329752delinsAT , CM000674.1:g.21329751_21329752delinsAT | GRCh37 |
| NC_000012.10:g.21221018_21221019delinsAT | NCBI36 |
| NG_011745.1:g.50624_50625delinsAT , LRG_1022:g.50624_50625delinsAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.401_402delinsAT MANE Select | ENSP00000256958.2:p.Asn134= | |
| ENST00000256958.2:c.401_402delinsAT | ENSP00000256958.2:p.Asn134= | |
| ENST00000543498.5:c.467_468delinsAT | ||
| NM_006446.4:c.401_402delinsAT , LRG_1022t1:c.401_402delinsAT | NP_006437.3:p.Asn134= | |
| NM_006446.5:c.401_402delinsAT MANE Select | NP_006437.3:p.Asn134= |