Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48966667_48966668delinsCCA , CM000681.2:g.48966667_48966668delinsCCA | GRCh38 |
| NC_000019.9:g.49469924_49469925delinsCCA , CM000681.1:g.49469924_49469925delinsCCA | GRCh37 |
| NC_000019.8:g.54161736_54161737delinsCCA | NCBI36 |
| NG_008152.1:g.6359_6360delinsCCA | |
| NG_012923.1:g.31686_31687delinsTGG |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000146.4:c.460_461delinsCCA MANE Select | NP_000137.2:p.Arg154ProfsTer27 |
| ENST00000331825.11:c.460_461delinsCCA MANE Select | ENSP00000366525.2:p.Arg154ProfsTer27 |
| NM_000146.3:c.460_461delinsCCA | NP_000137.2:p.Arg154ProfsTer27 |
| ENST00000331825.10:c.460_461delinsCCA | ENSP00000366525.2:p.Arg154ProfsTer27 |
| ENST00000622577.2:c.460_461delinsCCA | ENSP00000484043.1:p.Arg154ProfsTer23 |
| XM_024451447.1:c.970_971delinsCCA | XP_024307215.1:p.Arg324ProfsTer27 |