Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119670130del , CM000672.2:g.119670130del | GRCh38 |
| NC_000010.10:g.121429642del , CM000672.1:g.121429642del | GRCh37 |
| NC_000010.9:g.121419632del | NCBI36 |
| NG_016125.1:g.23761del , LRG_742:g.23761del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.460del MANE Select | ENSP00000358081.4:p.Val154TrpfsTer? | |
| ENST00000369085.7:c.460del | ENSP00000358081.3:p.Val154TrpfsTer? | |
| ENST00000450186.1:c.286del | ENSP00000410036.1:p.Val96TrpfsTer? | |
| NM_004281.3:c.460del , LRG_742t1:c.460del | NP_004272.2:p.Val154TrpfsTer? | |
| XM_005270287.1:c.460del | XP_005270344.1:p.Val154TrpfsTer? | |
| XM_005270287.2:c.460del | XP_005270344.1:p.Val154TrpfsTer? | |
| NM_004281.4:c.460del MANE Select | NP_004272.2:p.Val154TrpfsTer? |