Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114785369_114785370insC , CM000671.2:g.114785369_114785370insC | GRCh38 |
| NC_000009.11:g.117547649_117547650insC , CM000671.1:g.117547649_117547650insC | GRCh37 |
| NC_000009.10:g.116587470_116587471insC | NCBI36 |
| NG_011488.2:g.25759_25760insG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374045.5:c.*5082_*5083insG MANE Select | ENSP00000363157.3:n.*5082_*5083insG | |
| ENST00000374045.4:c.*5082_*5083insG | ENSP00000363157.3:n.*5082_*5083insG | |
| NM_001204344.1:c.5661_5662insG | NP_001191273.1:n.5661_5662insG | |
| NM_005118.3:c.*5082_*5083insG | NP_005109.2:n.*5082_*5083insG | |
| NM_005118.4:c.*5082_*5083insG MANE Select | NP_005109.2:n.*5082_*5083insG |