Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.49732123_49732128delinsATAAGT , CM000675.2:g.49732123_49732128delinsATAAGT | GRCh38 |
| NC_000013.10:g.50306259_50306264delinsATAAGT , CM000675.1:g.50306259_50306264delinsATAAGT | GRCh37 |
| NC_000013.9:g.49204260_49204265delinsATAAGT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261667.8:c.383+243_383+248delinsACTTAT MANE Select | ENSP00000261667.3:n.383+243_383+248delinsACTTAT | |
| ENST00000261667.7:c.383+243_383+248delinsACTTAT | ENSP00000261667.3:n.383+243_383+248delinsACTTAT | |
| NM_002267.3:c.383+243_383+248delinsACTTAT | NP_002258.2:n.383+243_383+248delinsACTTAT | |
| XM_017020561.1:c.311+243_311+248delinsACTTAT | XP_016876050.1:n.311+243_311+248delinsACTTAT | |
| NM_002267.4:c.383+243_383+248delinsACTTAT MANE Select | NP_002258.2:n.383+243_383+248delinsACTTAT |