Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38146200_38146201delinsAC , CM000670.2:g.38146200_38146201delinsAC | GRCh38 |
| NC_000008.10:g.38003718_38003719delinsAC , CM000670.1:g.38003718_38003719delinsAC | GRCh37 |
| NC_000008.9:g.38122875_38122876delinsAC | NCBI36 |
| NG_011827.1:g.9882_9883delinsGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.466-54_466-53delinsGT MANE Select | ENSP00000276449.3:n.466-54_466-53delinsGT | |
| ENST00000276449.8:c.466-54_466-53delinsGT | ENSP00000276449.3:n.466-54_466-53delinsGT | |
| ENST00000520114.1:n.953-54_953-53delinsGT | ||
| ENST00000522050.1:c.402-54_402-53delinsGT | ||
| NM_000349.2:c.466-54_466-53delinsGT | NP_000340.2:n.466-54_466-53delinsGT | |
| XM_006716392.1:c.466-54_466-53delinsGT | XP_006716455.1:n.466-54_466-53delinsGT | |
| NM_000349.3:c.466-54_466-53delinsGT MANE Select | NP_000340.2:n.466-54_466-53delinsGT |