Linked Data
gnomAD v2:
22-37551533-TGCTTTCTCACTCTGTCAGGGCTTTGTGCATGCTGAGCCTGCTCTTCCCTTGCCATTTTACAGGCCAGGAAACCAG-T
gnomAD v3:
22-37155493-TGCTTTCTCACTCTGTCAGGGCTTTGTGCATGCTGAGCCTGCTCTTCCCTTGCCATTTTACAGGCCAGGAAACCAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37155496_37155570del , CM000684.2:g.37155496_37155570del | GRCh38 |
| NC_000022.10:g.37551536_37551610del , CM000684.1:g.37551536_37551610del | GRCh37 |
| NC_000022.9:g.35881482_35881556del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000429622.6:c.-33-11363_-33-11289del | ENSP00000402685.2:n.-33-11363_-33-11289de... | |
| ENST00000445595.2:c.-34+6225_-34+6299del | ENSP00000401020.2:n.-34+6225_-34+6299del | |
| ENST00000453962.6:c.-33-11363_-33-11289del | ENSP00000403731.2:n.-33-11363_-33-11289de... | |
| ENST00000698883.1:c.-34+707_-34+781del | ENSP00000514005.1:n.-34+707_-34+781del | |
| ENST00000698892.1:c.-34+707_-34+781del | ENSP00000514011.1:n.-34+707_-34+781del | |
| ENST00000698893.1:c.-34+707_-34+781del | ENSP00000514012.1:n.-34+707_-34+781del | |
| ENST00000429622.5:c.-33-11363_-33-11289del | ENSP00000402685.1:n.-33-11363_-33-11289de... | |
| ENST00000445595.1:c.-34+6225_-34+6299del | ENSP00000401020.1:n.-34+6225_-34+6299del | |
| ENST00000453962.5:c.-33-11363_-33-11289del | ENSP00000403731.1:n.-33-11363_-33-11289de... | |
| ENST00000461607.5:n.98-11363_98-11289del | ||
| NM_001346222.1:c.-33-11363_-33-11289del | NP_001333151.1:n.-33-11363_-33-11289del | |
| NM_001346223.1:c.-33-11363_-33-11289del | NP_001333152.1:n.-33-11363_-33-11289del | |
| NM_001346223.2:c.-33-11363_-33-11289del | NP_001333152.1:n.-33-11363_-33-11289del |