Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.42963183_42963184insAT , CM000666.2:g.42963183_42963184insAT | GRCh38 |
| NC_000004.11:g.42965200_42965201insAT , CM000666.1:g.42965200_42965201insAT | GRCh37 |
| NC_000004.10:g.42659957_42659958insAT | NCBI36 |
| NG_027718.1:g.74918_74919insAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399770.3:c.627+49_627+50insAT MANE Select | ENSP00000382670.2:n.627+49_627+50insAT | |
| ENST00000399770.2:c.627+49_627+50insAT | ENSP00000382670.2:n.627+49_627+50insAT | |
| NM_001080476.2:c.627+49_627+50insAT | NP_001073945.1:n.627+49_627+50insAT | |
| XM_011513691.1:c.264+49_264+50insAT | XP_011511993.1:n.264+49_264+50insAT | |
| NM_001080476.3:c.627+49_627+50insAT MANE Select | NP_001073945.1:n.627+49_627+50insAT |