Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19117059_19117060insTG , CM000669.2:g.19117059_19117060insTG | GRCh38 |
| NC_000007.13:g.19156682_19156683insTG , CM000669.1:g.19156682_19156683insTG | GRCh37 |
| NC_000007.12:g.19123207_19123208insTG | NCBI36 |
| NG_008114.1:g.5613_5614insCA | |
| NG_008114.2:g.5613_5614insCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.262_263insCA MANE Select | ENSP00000242261.5:p.Gly88AlafsTer? | |
| ENST00000242261.5:c.262_263insCA | ENSP00000242261.5:p.Gly88AlafsTer? | |
| ENST00000354571.5:c.59_60insCA | ||
| NM_000474.3:c.262_263insCA | NP_000465.1:p.Gly88AlafsTer? | |
| XM_011515496.1:c.262_263insCA | XP_011513798.1:p.Gly88AlafsTer? | |
| NR_149001.1:n.613_614insCA | ||
| NM_000474.4:c.262_263insCA MANE Select | NP_000465.1:p.Gly88AlafsTer? | |
| NR_149001.2:n.577_578insCA |