Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19961689_19961693delinsGCAAA , CM000670.2:g.19961689_19961693delinsGCAAA | GRCh38 |
| NC_000008.10:g.19819200_19819204delinsGCAAA , CM000670.1:g.19819200_19819204delinsGCAAA | GRCh37 |
| NC_000008.9:g.19863480_19863484delinsGCAAA | NCBI36 |
| NG_008855.1:g.27619_27623delinsGCAAA | |
| NG_008855.2:g.64973_64977delinsGCAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.1323-426_1323-422delinsGCAAA MANE Select | ENSP00000497642.1:n.1323-426_1323-422delinsGCAAA | |
| ENST00000650478.1:c.263-426_263-422delinsGCAAA | ENSP00000497560.1:n.263-426_263-422delinsGCAAA | |
| ENST00000311322.8:c.1323-426_1323-422delinsGCAAA | ENSP00000309757.6:n.1323-426_1323-422delinsGCAAA | |
| NM_000237.2:c.1323-426_1323-422delinsGCAAA | NP_000228.1:n.1323-426_1323-422delinsGCAAA | |
| NM_000237.3:c.1323-426_1323-422delinsGCAAA MANE Select | NP_000228.1:n.1323-426_1323-422delinsGCAAA |