Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40867091_40867092delinsGC , CM000679.2:g.40867091_40867092delinsGC | GRCh38 |
| NC_000017.10:g.39023343_39023344delinsGC , CM000679.1:g.39023343_39023344delinsGC | GRCh37 |
| NC_000017.9:g.36276869_36276870delinsGC | NCBI36 |
| NG_008077.1:g.5119_5120delinsGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251643.5:c.95_96delinsGC MANE Select | ENSP00000251643.4:p.Gly32= | |
| ENST00000647902.1:c.95_96delinsGC | ENSP00000497770.1:p.Gly32= | |
| ENST00000251643.4:c.95_96delinsGC | ENSP00000251643.4:p.Gly32= | |
| NM_000223.3:c.95_96delinsGC | NP_000214.1:p.Gly32= | |
| XR_934754.1:n.1500+16231_1500+16232delinsGC | ||
| XR_934754.2:n.2008+16231_2008+16232delinsGC | ||
| NM_000223.4:c.95_96delinsGC MANE Select | NP_000214.1:p.Gly32= |