Linked Data
gnomAD v4:
4-67754035-ACATCC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67754041_67754045del , CM000666.2:g.67754041_67754045del | GRCh38 |
| NC_000004.11:g.68619759_68619763del , CM000666.1:g.68619759_68619763del | GRCh37 |
| NC_000004.10:g.68302354_68302358del | NCBI36 |
| NG_009293.1:g.7047_7051del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.296_300del MANE Select | ENSP00000226413.5:p.Gly99ValfsTer? | |
| ENST00000226413.4:c.296_300del | ENSP00000226413.4:p.Gly99ValfsTer? | |
| ENST00000420975.2:c.296_300del | ENSP00000397561.2:p.Gly99ValfsTer? | |
| NM_000406.2:c.296_300del | NP_000397.1:p.Gly99ValfsTer? | |
| NM_001012763.1:c.296_300del | NP_001012781.1:p.Gly99ValfsTer? | |
| NM_000406.3:c.296_300del MANE Select | NP_000397.1:p.Gly99ValfsTer? | |
| NM_001012763.2:c.296_300del | NP_001012781.1:p.Gly99ValfsTer? |