Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571680_154571681insA , CM000663.2:g.154571680_154571681insA | GRCh38 |
| NC_000001.10:g.154544156_154544157insA , CM000663.1:g.154544156_154544157insA | GRCh37 |
| NC_000001.9:g.152810780_152810781insA | NCBI36 |
| NG_008027.1:g.8900_8901insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.857_858insA MANE Select | ENSP00000357461.3:p.Val287ArgfsTer? | |
| ENST00000636034.1:c.857_858insA | ENSP00000489703.1:p.Val287ArgfsTer? | |
| ENST00000637900.1:c.863_864insA | ENSP00000490474.1:p.Val289ArgfsTer? | |
| ENST00000368476.3:c.857_858insA | ENSP00000357461.3:p.Val287ArgfsTer? | |
| NM_000748.2:c.857_858insA | NP_000739.1:p.Val287ArgfsTer? | |
| XM_017000180.2:c.347_348insA | XP_016855669.1:p.Val117ArgfsTer? | |
| XR_001736952.2:n.1109_1110insA | ||
| NM_000748.3:c.857_858insA MANE Select | NP_000739.1:p.Val287ArgfsTer? |