Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.93953436_93953437delinsGC , CM000671.2:g.93953436_93953437delinsGC | GRCh38 |
| NC_000009.11:g.96715718_96715719delinsGC , CM000671.1:g.96715718_96715719delinsGC | GRCh37 |
| NC_000009.10:g.95755539_95755540delinsGC | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253968.11:c.224-250_224-249delinsGC MANE Select | ENSP00000253968.5:n.224-250_224-249delinsGC | |
| ENST00000253968.10:c.224-250_224-249delinsGC | ENSP00000253968.5:n.224-250_224-249delinsGC | |
| NM_021570.3:c.224-250_224-249delinsGC | NP_067545.3:n.224-250_224-249delinsGC | |
| NM_021570.4:c.224-250_224-249delinsGC MANE Select | NP_067545.3:n.224-250_224-249delinsGC |