Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38408916_38408917delinsCA , CM000685.2:g.38408916_38408917delinsCA | GRCh38 |
| NC_000023.10:g.38268169_38268170delinsCA , CM000685.1:g.38268169_38268170delinsCA | GRCh37 |
| NC_000023.9:g.38153113_38153114delinsCA | NCBI36 |
| NG_008471.1:g.61434_61435delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.758_759delinsCA MANE Select | ENSP00000039007.4:p.Ala253= | |
| ENST00000643344.1:c.*508_*509delinsCA | ENSP00000496606.1:n.*508_*509delinsCA | |
| ENST00000039007.4:c.758_759delinsCA | ENSP00000039007.4:p.Ala253= | |
| ENST00000465127.1:c.172-257205_172-257204delinsCA | ENSP00000417050.1:n.172-257205_172-257204delinsCA | |
| NM_000531.5:c.758_759delinsCA | NP_000522.3:p.Ala253= | |
| XM_017029556.1:c.758_759delinsCA | XP_016885045.1:p.Ala253= | |
| NM_000531.6:c.758_759delinsCA MANE Select | NP_000522.3:p.Ala253= |