Linked Data
gnomAD v4:
6-32443936-GTCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32443937_32443939del , CM000668.2:g.32443937_32443939del | GRCh38 |
| NC_000006.11:g.32411714_32411716del , CM000668.1:g.32411714_32411716del | GRCh37 |
| NC_000006.10:g.32519692_32519694del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395388.7:c.*11+16_*11+18del MANE Select | ENSP00000378786.2:n.*11+16_*11+18del | |
| ENST00000374982.5:c.*11+16_*11+18del | ENSP00000364121.5:n.*11+16_*11+18del | |
| ENST00000395388.6:c.*11+16_*11+18del | ENSP00000378786.2:n.*11+16_*11+18del | |
| NM_019111.4:c.*11+16_*11+18del | NP_061984.2:n.*11+16_*11+18del | |
| NM_019111.5:c.*11+16_*11+18del MANE Select | NP_061984.2:n.*11+16_*11+18del |