Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.176778_176779insT , CM000678.2:g.176778_176779insT | GRCh38 |
| NC_000016.9:g.226777_226778insT , CM000678.1:g.226777_226778insT | GRCh37 |
| NC_000016.8:g.166777_166778insT | NCBI36 |
| NG_000006.1:g.37641_37642insT | |
| NG_059186.1:g.5128_5129insT |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000558.5:c.62_63insT MANE Select | NP_000549.1:p.Ala22ArgfsTer? |
| ENST00000320868.9:c.62_63insT MANE Select | ENSP00000322421.5:p.Ala22ArgfsTer? |
| NM_000558.4:c.62_63insT | NP_000549.1:p.Ala22ArgfsTer? |
| ENST00000397797.1:c.-2+16_-2+17insT | ENSP00000380899.1:n.-2+16_-2+17insT |
| ENST00000472694.1:n.81_82insT | |
| ENST00000487791.1:n.31_32insT |