Linked Data
gnomAD v4:
5-71719645-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71719648del , CM000667.2:g.71719648del | GRCh38 |
| NC_000005.9:g.71015475del , CM000667.1:g.71015475del | GRCh37 |
| NC_000005.8:g.71051231del | NCBI36 |
| NG_015988.1:g.5486del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296777.5:c.159+196del MANE Select | ENSP00000296777.4:n.159+196del | |
| ENST00000296777.4:c.159+196del | ENSP00000296777.4:n.159+196del | |
| ENST00000513096.1:n.70del | ||
| NM_004291.3:c.159+196del | NP_004282.1:n.159+196del | |
| NM_004291.4:c.159+196del MANE Select | NP_004282.1:n.159+196del |