Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47004307_47004308delinsCG , CM000681.2:g.47004307_47004308delinsCG | GRCh38 |
| NC_000019.9:g.47507564_47507565delinsCG , CM000681.1:g.47507564_47507565delinsCG | GRCh37 |
| NC_000019.8:g.52199404_52199405delinsCG | NCBI36 |
| NG_047014.1:g.90741_90742delinsCG | |
| NG_047014.2:g.148311_148312delinsCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404338.8:c.8119_8120delinsCG | ENSP00000385720.2:n.8119_8120delinsCG | |
| ENST00000672722.1:c.*3619_*3620delinsCG MANE Select | ENSP00000500409.1:n.*3619_*3620delinsCG | |
| ENST00000404338.7:c.8119_8120delinsCG | ENSP00000385720.2:n.8119_8120delinsCG | |
| NM_004491.4:c.8119_8120delinsCG | NP_004482.4:n.8119_8120delinsCG | |
| NM_004491.5:c.*3619_*3620delinsCG MANE Select | NP_004482.4:n.*3619_*3620delinsCG |