Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.30313549_30313552delinsAAGT , CM000672.2:g.30313549_30313552delinsAAGT | GRCh38 |
| NC_000010.10:g.30602478_30602481delinsAAGT , CM000672.1:g.30602478_30602481delinsAAGT | GRCh37 |
| NC_000010.9:g.30642484_30642487delinsAAGT | NCBI36 |
| NG_028096.1:g.40787_40790delinsACTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263063.9:c.*57_*60delinsACTT MANE Select | ENSP00000263063.3:n.*57_*60delinsACTT | |
| ENST00000263063.8:c.*57_*60delinsACTT | ENSP00000263063.3:n.*57_*60delinsACTT | |
| ENST00000488290.5:n.3561_3564delinsACTT | ||
| NM_018109.3:c.*57_*60delinsACTT | NP_060579.3:n.*57_*60delinsACTT | |
| NM_018109.4:c.*57_*60delinsACTT MANE Select | NP_060579.3:n.*57_*60delinsACTT |