Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119677047_119677048insGGGAGAC , CM000672.2:g.119677047_119677048insGGGAGAC | GRCh38 |
| NC_000010.10:g.121436559_121436560insGGGAGAC , CM000672.1:g.121436559_121436560insGGGAGAC | GRCh37 |
| NC_000010.9:g.121426549_121426550insGGGAGAC | NCBI36 |
| NG_016125.1:g.30678_30679insGGGAGAC , LRG_742:g.30678_30679insGGGAGAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.1493_1494insGGGAGAC MANE Select | ENSP00000358081.4:p.Ile499GlyfsTer4 | |
| ENST00000369085.7:c.1493_1494insGGGAGAC | ENSP00000358081.3:p.Ile499GlyfsTer4 | |
| NM_004281.3:c.1493_1494insGGGAGAC , LRG_742t1:c.1493_1494insGGGAGAC | NP_004272.2:p.Ile499GlyfsTer4 | |
| XM_005270287.1:c.1490_1491insGGGAGAC | XP_005270344.1:p.Ile498GlyfsTer4 | |
| XM_005270287.2:c.1490_1491insGGGAGAC | XP_005270344.1:p.Ile498GlyfsTer4 | |
| NM_004281.4:c.1493_1494insGGGAGAC MANE Select | NP_004272.2:p.Ile499GlyfsTer4 |