Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215675571_215675572insGTTTT , CM000663.2:g.215675571_215675572insGTTTT | GRCh38 |
| NC_000001.10:g.215848913_215848914insGTTTT , CM000663.1:g.215848913_215848914insGTTTT | GRCh37 |
| NC_000001.9:g.213915536_213915537insGTTTT | NCBI36 |
| NG_009497.1:g.752827_752828insAACAA | |
| NG_009497.2:g.752879_752880insAACAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.12341_12342insAACAA MANE Select | ENSP00000305941.3:p.Asn4114LysfsTer19 | |
| ENST00000674083.1:c.12341_12342insAACAA | ENSP00000501296.1:p.Asn4114LysfsTer19 | |
| ENST00000307340.7:c.12341_12342insAACAA | ENSP00000305941.3:p.Asn4114LysfsTer19 | |
| NM_206933.2:c.12341_12342insAACAA | NP_996816.2:p.Asn4114LysfsTer19 | |
| NM_206933.3:c.12341_12342insAACAA | NP_996816.2:p.Asn4114LysfsTer19 | |
| NM_206933.4:c.12341_12342insAACAA MANE Select | NP_996816.3:p.Asn4114LysfsTer19 |