Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21816609_21816610insAGA , CM000669.2:g.21816609_21816610insAGA | GRCh38 |
| NC_000007.13:g.21856227_21856228insAGA , CM000669.1:g.21856227_21856228insAGA | GRCh37 |
| NC_000007.12:g.21822752_21822753insAGA | NCBI36 |
| NG_012886.2:g.278395_278396insAGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.10475_10476insAGA MANE Select | ENSP00000475939.1:p.Trp3492Ter | |
| ENST00000328843.10:c.10496_10497insAGA | ENSP00000330671.7:p.Trp3499Ter | |
| ENST00000409508.7:c.10475_10476insAGA | ENSP00000475939.1:p.Trp3492Ter | |
| ENST00000620169.4:c.10496_10497insAGA | ENSP00000481693.1:p.Trp3499Ter | |
| NM_001277115.1:c.10475_10476insAGA | NP_001264044.1:p.Trp3492Ter | |
| NM_001277115.2:c.10475_10476insAGA MANE Select | NP_001264044.1:p.Trp3492Ter |