Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21176896del , CM000674.2:g.21176896del | GRCh38 |
| NC_000012.11:g.21329830del , CM000674.1:g.21329830del | GRCh37 |
| NC_000012.10:g.21221097del | NCBI36 |
| NG_011745.1:g.50703del , LRG_1022:g.50703del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000256958.3:c.480del MANE Select | ENSP00000256958.2:p.Gly161ValfsTer3 | |
| ENST00000256958.2:c.480del | ENSP00000256958.2:p.Gly161ValfsTer3 | |
| NM_006446.4:c.480del , LRG_1022t1:c.480del | NP_006437.3:p.Gly161ValfsTer3 | |
| NM_006446.5:c.480del MANE Select | NP_006437.3:p.Gly161ValfsTer3 |