Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119651771_119651772del , CM000672.2:g.119651771_119651772del | GRCh38 |
| NC_000010.10:g.121411283_121411284del , CM000672.1:g.121411283_121411284del | GRCh37 |
| NC_000010.9:g.121401273_121401274del | NCBI36 |
| NG_016125.1:g.5402_5403del , LRG_742:g.5402_5403del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004281.4:c.96_97del MANE Select | NP_004272.2:p.Gln33AspfsTer24 |
| ENST00000369085.8:c.96_97del MANE Select | ENSP00000358081.4:p.Gln33AspfsTer24 |
| NM_004281.3:c.96_97del , LRG_742t1:c.96_97del | NP_004272.2:p.Gln33AspfsTer24 |
| ENST00000369085.7:c.96_97del | ENSP00000358081.3:p.Gln33AspfsTer24 |
| XM_005270287.1:c.96_97del | XP_005270344.1:p.Gln33AspfsTer24 |
| XM_005270287.2:c.96_97del | XP_005270344.1:p.Gln33AspfsTer24 |