Linked Data
gnomAD v4:
4-68646729-ATTT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68646739_68646741del , CM000666.2:g.68646739_68646741del | GRCh38 |
| NC_000004.11:g.69512457_69512459del , CM000666.1:g.69512457_69512459del | GRCh37 |
| NC_000004.10:g.69195052_69195054del | NCBI36 |
| NG_052676.1:g.29045_29047del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.*372_*374del MANE Select | ENSP00000341045.5:n.*372_*374del | |
| ENST00000338206.5:c.*372_*374del | ENSP00000341045.5:n.*372_*374del | |
| ENST00000616841.4:c.1732+233_1732+235del | ENSP00000482004.1:n.1732+233_1732+235del | |
| NM_001076.3:c.*372_*374del | NP_001067.2:n.*372_*374del | |
| NM_001076.4:c.*372_*374del MANE Select | NP_001067.2:n.*372_*374del |