Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.38396718_38396719delinsCG , CM000671.2:g.38396718_38396719delinsCG | GRCh38 |
| NC_000009.11:g.38396715_38396716delinsCG , CM000671.1:g.38396715_38396716delinsCG | GRCh37 |
| NC_000009.10:g.38386715_38386716delinsCG | NCBI36 |
| NG_012253.1:g.9014_9015delinsCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377698.4:c.970_971delinsCG MANE Select | ENSP00000366927.3:p.Arg324= | |
| ENST00000377698.3:c.970_971delinsCG | ENSP00000366927.3:p.Arg324= | |
| NM_000692.4:c.970_971delinsCG | NP_000683.3:p.Arg324= | |
| XM_011517802.1:c.970_971delinsCG | XP_011516104.1:p.Arg324= | |
| XM_011517802.2:c.970_971delinsCG | XP_011516104.1:p.Arg324= | |
| NM_000692.5:c.970_971delinsCG MANE Select | NP_000683.3:p.Arg324= |