Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47003988_47003990delinsAAG , CM000681.2:g.47003988_47003990delinsAAG | GRCh38 |
| NC_000019.9:g.47507245_47507247delinsAAG , CM000681.1:g.47507245_47507247delinsAAG | GRCh37 |
| NC_000019.8:g.52199085_52199087delinsAAG | NCBI36 |
| NG_047014.1:g.90422_90424delinsAAG | |
| NG_047014.2:g.147992_147994delinsAAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404338.8:c.7800_7802delinsAAG | ENSP00000385720.2:n.7800_7802delinsAAG | |
| ENST00000672722.1:c.*3300_*3302delinsAAG MANE Select | ENSP00000500409.1:n.*3300_*3302delinsAAG | |
| ENST00000404338.7:c.7800_7802delinsAAG | ENSP00000385720.2:n.7800_7802delinsAAG | |
| ENST00000614079.1:c.7377_7379delinsAAG | ENSP00000483730.1:n.7377_7379delinsAAG | |
| NM_004491.4:c.7800_7802delinsAAG | NP_004482.4:n.7800_7802delinsAAG | |
| NM_004491.5:c.*3300_*3302delinsAAG MANE Select | NP_004482.4:n.*3300_*3302delinsAAG |