Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146340673_146340675del , CM000667.2:g.146340673_146340675del | GRCh38 |
| NC_000005.9:g.145720236_145720238del , CM000667.1:g.145720236_145720238del | GRCh37 |
| NC_000005.8:g.145700429_145700431del | NCBI36 |
| NG_011885.1:g.6650_6652del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002700.3:c.*229_*231del MANE Select | NP_002691.1:n.*229_*231del |
| ENST00000646991.2:c.*229_*231del MANE Select | ENSP00000495718.1:n.*229_*231del |