Linked Data
gnomAD v4:
6-32443954-TGGAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32443955_32443958del , CM000668.2:g.32443955_32443958del | GRCh38 |
| NC_000006.11:g.32411732_32411735del , CM000668.1:g.32411732_32411735del | GRCh37 |
| NC_000006.10:g.32519710_32519713del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395388.7:c.*11+34_*11+37del MANE Select | ENSP00000378786.2:n.*11+34_*11+37del | |
| ENST00000374982.5:c.*11+34_*11+37del | ENSP00000364121.5:n.*11+34_*11+37del | |
| ENST00000395388.6:c.*11+34_*11+37del | ENSP00000378786.2:n.*11+34_*11+37del | |
| NM_019111.4:c.*11+34_*11+37del | NP_061984.2:n.*11+34_*11+37del | |
| NM_019111.5:c.*11+34_*11+37del MANE Select | NP_061984.2:n.*11+34_*11+37del |