Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42184651_42184655delinsCACTT , CM000679.2:g.42184651_42184655delinsCACTT | GRCh38 |
| NC_000017.10:g.40336669_40336673delinsCACTT , CM000679.1:g.40336669_40336673delinsCACTT | GRCh37 |
| NC_000017.9:g.37590195_37590199delinsCACTT | NCBI36 |
| NG_011448.1:g.5798_5802delinsAAGTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293330.1:c.22-127_22-123delinsAAGTG MANE Select | ENSP00000293330.1:n.22-127_22-123delinsAAGTG | |
| NM_001524.1:c.22-127_22-123delinsAAGTG MANE Select | NP_001515.1:n.22-127_22-123delinsAAGTG |