Linked Data
gnomAD v4:
16-67940815-GCAGTGAGAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67940817_67940825del , CM000678.2:g.67940817_67940825del | GRCh38 |
| NC_000016.9:g.67974720_67974728del , CM000678.1:g.67974720_67974728del | GRCh37 |
| NC_000016.8:g.66532221_66532229del | NCBI36 |
| NG_009778.1:g.8289_8297del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.749-346_749-338del MANE Select | ENSP00000264005.5:n.749-346_749-338del | |
| ENST00000264005.9:c.749-346_749-338del | ENSP00000264005.5:n.749-346_749-338del | |
| ENST00000570369.5:c.156-750_156-742del | ||
| ENST00000570980.1:c.533-346_533-338del | ENSP00000464651.1:n.533-346_533-338del | |
| ENST00000573538.5:c.399_407del | ENSP00000463220.1:p.Ser134_Cys136del | |
| NM_000229.1:c.749-346_749-338del | NP_000220.1:n.749-346_749-338del | |
| NM_000229.2:c.749-346_749-338del MANE Select | NP_000220.1:n.749-346_749-338del |