Linked Data
gnomAD v4:
16-67940821-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67940822del , CM000678.2:g.67940822del | GRCh38 |
| NC_000016.9:g.67974725del , CM000678.1:g.67974725del | GRCh37 |
| NC_000016.8:g.66532226del | NCBI36 |
| NG_009778.1:g.8291del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.749-344del MANE Select | ENSP00000264005.5:n.749-344del | |
| ENST00000264005.9:c.749-344del | ENSP00000264005.5:n.749-344del | |
| ENST00000570369.5:c.156-748del | ||
| ENST00000570980.1:c.533-344del | ENSP00000464651.1:n.533-344del | |
| ENST00000573538.5:c.401del | ENSP00000463220.1:p.Ser134PhefsTer30 | |
| NM_000229.1:c.749-344del | NP_000220.1:n.749-344del | |
| NM_000229.2:c.749-344del MANE Select | NP_000220.1:n.749-344del |