Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013598_25013599insTCAAGATC , CM000685.2:g.25013598_25013599insTCAAGATC | GRCh38 |
| NC_000023.10:g.25031715_25031716insTCAAGATC , CM000685.1:g.25031715_25031716insTCAAGATC | GRCh37 |
| NC_000023.9:g.24941636_24941637insTCAAGATC | NCBI36 |
| NG_008281.1:g.7351_7352insATCTTGAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.397_398insATCTTGAG MANE Select | ENSP00000368332.4:p.Ala133AspfsTer? | |
| ENST00000379044.4:c.397_398insATCTTGAG | ENSP00000368332.4:p.Ala133AspfsTer? | |
| NM_139058.2:c.397_398insATCTTGAG | NP_620689.1:p.Ala133AspfsTer? | |
| NM_139058.3:c.397_398insATCTTGAG MANE Select | NP_620689.1:p.Ala133AspfsTer? |