Linked Data
gnomAD v4:
21-44456700-CTTGT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44456701_44456704del , CM000683.2:g.44456701_44456704del | GRCh38 |
| NC_000021.8:g.45876584_45876587del , CM000683.1:g.45876584_45876587del | GRCh37 |
| NC_000021.7:g.44701012_44701015del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291592.6:c.57_60del MANE Select | ENSP00000291592.4:p.Cys20SerfsTer? | |
| ENST00000291592.5:c.57_60del | ENSP00000291592.4:p.Cys20SerfsTer? | |
| NM_030891.4:c.57_60del | NP_112153.1:p.Cys20SerfsTer? | |
| NM_030891.5:c.57_60del | NP_112153.1:p.Cys20SerfsTer? | |
| NM_030891.6:c.57_60del MANE Select | NP_112153.1:p.Cys20SerfsTer? |