Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7525010_7525016delinsGCCTTCA , CM000681.2:g.7525010_7525016delinsGCCTTCA | GRCh38 |
| NC_000019.9:g.7589896_7589902delinsGCCTTCA , CM000681.1:g.7589896_7589902delinsGCCTTCA | GRCh37 |
| NC_000019.8:g.7495896_7495902delinsGCCTTCA | NCBI36 |
| NG_015806.1:g.7401_7407delinsGCCTTCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.81_87delinsGCCTTCA MANE Select | ENSP00000264079.5:p.Gly27= | |
| ENST00000264079.10:c.81_87delinsGCCTTCA | ENSP00000264079.5:p.Gly27= | |
| ENST00000394321.9:n.161_167delinsGCCTTCA | ||
| ENST00000596390.1:n.197_203delinsGCCTTCA | ||
| ENST00000601003.1:c.81_87delinsGCCTTCA | ENSP00000469074.1:p.Gly27= | |
| NM_020533.2:c.81_87delinsGCCTTCA | NP_065394.1:p.Gly27= | |
| NM_020533.3:c.81_87delinsGCCTTCA MANE Select | NP_065394.1:p.Gly27= |