Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965728_37965729delinsCG , CM000670.2:g.37965728_37965729delinsCG | GRCh38 |
| NC_000008.10:g.37823246_37823247delinsCG , CM000670.1:g.37823246_37823247delinsCG | GRCh37 |
| NC_000008.9:g.37942403_37942404delinsCG | NCBI36 |
| NG_011936.1:g.5938_5939delinsCG |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000025.3:c.741_742delinsCG MANE Select | NP_000016.1:p.Pro247= |
| ENST00000345060.5:c.741_742delinsCG MANE Select | ENSP00000343782.3:p.Pro247= |
| NM_000025.2:c.741_742delinsCG | NP_000016.1:p.Pro247= |
| ENST00000345060.4:c.741_742delinsCG | ENSP00000343782.3:p.Pro247= |
| ENST00000520341.1:n.16_17delinsCG | |
| ENST00000520341.2:n.869_870delinsCG | |
| ENST00000614635.1:c.741_742delinsCG | ENSP00000480325.1:p.Pro247= |
| ENST00000647937.1:c.225_226delinsCG | ENSP00000497740.1:p.Pro75= |