Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38408986_38408987delinsAA , CM000685.2:g.38408986_38408987delinsAA | GRCh38 |
| NC_000023.10:g.38268239_38268240delinsAA , CM000685.1:g.38268239_38268240delinsAA | GRCh37 |
| NC_000023.9:g.38153183_38153184delinsAA | NCBI36 |
| NG_008471.1:g.61504_61505delinsAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.828_829delinsAA MANE Select | ENSP00000039007.4:p.Lys276= | |
| ENST00000643344.1:c.*578_*579delinsAA | ENSP00000496606.1:n.*578_*579delinsAA | |
| ENST00000039007.4:c.828_829delinsAA | ENSP00000039007.4:p.Lys276= | |
| ENST00000465127.1:c.172-257135_172-257134delinsAA | ENSP00000417050.1:n.172-257135_172-257134delinsAA | |
| NM_000531.5:c.828_829delinsAA | NP_000522.3:p.Lys276= | |
| XM_017029556.1:c.828_829delinsAA | XP_016885045.1:p.Lys276= | |
| NM_000531.6:c.828_829delinsAA MANE Select | NP_000522.3:p.Lys276= |