Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767387_28767388delinsG , CM000676.2:g.28767387_28767388delinsG | GRCh38 |
| NC_000014.8:g.29236593_29236594delinsG , CM000676.1:g.29236593_29236594delinsG | GRCh37 |
| NC_000014.7:g.28306344_28306345delinsG | NCBI36 |
| NG_009367.1:g.5307_5308delinsG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.108_109delinsG | ENSP00000516406.1:p.Ser36ArgfsTer? | |
| ENST00000313071.7:c.108_109delinsG MANE Select | ENSP00000339004.3:p.Ser36ArgfsTer? | |
| ENST00000313071.6:c.108_109delinsG | ENSP00000339004.3:p.Ser36ArgfsTer? | |
| NM_005249.4:c.108_109delinsG | NP_005240.3:p.Ser36ArgfsTer? | |
| NM_005249.5:c.108_109delinsG MANE Select | NP_005240.3:p.Ser36ArgfsTer? |