Linked Data
gnomAD v4:
6-32443842-ATTGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32443843_32443846del , CM000668.2:g.32443843_32443846del | GRCh38 |
| NC_000006.11:g.32411620_32411623del , CM000668.1:g.32411620_32411623del | GRCh37 |
| NC_000006.10:g.32519598_32519601del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395388.7:c.698_701del MANE Select | ENSP00000378786.2:p.Ile233ArgfsTer? | |
| ENST00000374982.5:c.623_626del | ENSP00000364121.5:p.Ile208ArgfsTer? | |
| ENST00000395388.6:c.698_701del | ENSP00000378786.2:p.Ile233ArgfsTer? | |
| NM_019111.4:c.698_701del | NP_061984.2:p.Ile233ArgfsTer? | |
| NM_019111.5:c.698_701del MANE Select | NP_061984.2:p.Ile233ArgfsTer? |