Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652482_171652483delinsTC , CM000663.2:g.171652482_171652483delinsTC | GRCh38 |
| NC_000001.10:g.171621622_171621623delinsTC , CM000663.1:g.171621622_171621623delinsTC | GRCh37 |
| NC_000001.9:g.169888245_169888246delinsTC | NCBI36 |
| NG_008859.1:g.5151_5152delinsGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.129_130delinsGA MANE Select | ENSP00000037502.5:p.Gln43= | |
| ENST00000638471.1:c.129_130delinsGA | ENSP00000491206.1:p.Gln43= | |
| ENST00000037502.10:c.129_130delinsGA | ENSP00000037502.5:p.Gln43= | |
| ENST00000614688.1:c.129_130delinsGA | ENSP00000478680.1:p.Gln43= | |
| NM_000261.1:c.129_130delinsGA | NP_000252.1:p.Gln43= | |
| NM_000261.2:c.129_130delinsGA MANE Select | NP_000252.1:p.Gln43= |