Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173590_173591insT , CM000678.2:g.173590_173591insT | GRCh38 |
| NC_000016.9:g.223589_223590insT , CM000678.1:g.223589_223590insT | GRCh37 |
| NC_000016.8:g.163589_163590insT | NCBI36 |
| NG_000006.1:g.34453_34454insT | |
| NG_059186.1:g.1940_1941insT | |
| NG_059271.1:g.5744_5745insT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251595.11:c.419_420insT MANE Select | ENSP00000251595.6:p.Lys140AsnfsTer? | |
| ENST00000251595.10:c.419_420insT | ENSP00000251595.6:p.Lys140AsnfsTer? | |
| ENST00000397806.1:c.323_324insT | ENSP00000380908.1:p.Lys108AsnfsTer? | |
| ENST00000482565.1:n.555_556insT | ||
| NM_000517.4:c.419_420insT | NP_000508.1:p.Lys140AsnfsTer? | |
| NM_000517.6:c.419_420insT MANE Select | NP_000508.1:p.Lys140AsnfsTer? |