Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20888266_20888272delinsTGGTGGA , CM000684.2:g.20888266_20888272delinsTGGTGGA | GRCh38 |
| NC_000022.10:g.21242554_21242560delinsTGGTGGA , CM000684.1:g.21242554_21242560delinsTGGTGGA | GRCh37 |
| NC_000022.9:g.19572554_19572560delinsTGGTGGA | NCBI36 |
| NG_012152.1:g.34263_34269delinsTGGTGGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215730.12:c.*430_*436delinsTGGTGGA MANE Select | ENSP00000215730.6:n.*430_*436delinsTGGTGGA | |
| ENST00000215730.11:c.*430_*436delinsTGGTGGA | ENSP00000215730.6:n.*430_*436delinsTGGTGGA | |
| NM_004782.3:c.*430_*436delinsTGGTGGA | NP_004773.1:n.*430_*436delinsTGGTGGA | |
| NM_004782.4:c.*430_*436delinsTGGTGGA MANE Select | NP_004773.1:n.*430_*436delinsTGGTGGA |