Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19117045_19117054delinsTGCCGCCGCC , CM000669.2:g.19117045_19117054delinsTGCCGCCGCC | GRCh38 |
| NC_000007.13:g.19156668_19156677delinsTGCCGCCGCC , CM000669.1:g.19156668_19156677delinsTGCCGCCGCC | GRCh37 |
| NC_000007.12:g.19123193_19123202delinsTGCCGCCGCC | NCBI36 |
| NG_008114.1:g.5619_5628delinsGGCGGCGGCA | |
| NG_008114.2:g.5619_5628delinsGGCGGCGGCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.268_277delinsGGCGGCGGCA MANE Select | ENSP00000242261.5:p.Gly90= | |
| ENST00000242261.5:c.268_277delinsGGCGGCGGCA | ENSP00000242261.5:p.Gly90= | |
| ENST00000354571.5:c.65_74delinsGGCGGCGGCA | ||
| NM_000474.3:c.268_277delinsGGCGGCGGCA | NP_000465.1:p.Gly90= | |
| XM_011515496.1:c.268_277delinsGGCGGCGGCA | XP_011513798.1:p.Gly90= | |
| NR_149001.1:n.619_628delinsGGCGGCGGCA | ||
| NM_000474.4:c.268_277delinsGGCGGCGGCA MANE Select | NP_000465.1:p.Gly90= | |
| NR_149001.2:n.583_592delinsGGCGGCGGCA |