Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.39244734_39244740delinsCTGCGAG , CM000684.2:g.39244734_39244740delinsCTGCGAG | GRCh38 |
| NC_000022.10:g.39640739_39640745delinsCTGCGAG , CM000684.1:g.39640739_39640745delinsCTGCGAG | GRCh37 |
| NC_000022.9:g.37970685_37970691delinsCTGCGAG | NCBI36 |
| NG_012111.1:g.5213_5219delinsCTCGCAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331163.11:c.-777_-771delinsCTCGCAG MANE Select | ENSP00000330382.6:n.-777_-771delinsCTCGCAG | |
| ENST00000331163.10:c.-777_-771delinsCTCGCAG | ENSP00000330382.6:n.-777_-771delinsCTCGCAG | |
| NM_002608.2:c.-777_-771delinsCTCGCAG | NP_002599.1:n.-777_-771delinsCTCGCAG | |
| NM_002608.3:c.-777_-771delinsCTCGCAG | NP_002599.1:n.-777_-771delinsCTCGCAG | |
| NM_002608.4:c.-777_-771delinsCTCGCAG MANE Select | NP_002599.1:n.-777_-771delinsCTCGCAG |