Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.44385960_44385972delinsGTACTTACTGCCT , CM000672.2:g.44385960_44385972delinsGTACTTACTGCCT | GRCh38 |
| NC_000010.10:g.44881408_44881420delinsGTACTTACTGCCT , CM000672.1:g.44881408_44881420delinsGTACTTACTGCCT | GRCh37 |
| NC_000010.9:g.44201414_44201426delinsGTACTTACTGCCT | NCBI36 |
| NG_016861.1:g.4126_4138delinsAGGCAGTAAGTAC | |
| NG_016861.2:g.4126_4138delinsAGGCAGTAAGTAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496375.1:n.518+4_518+16delinsAGGCAGTAAGTAC |