Linked Data
gnomAD v4:
20-46010341-A-AAAAAAAAAAC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46010341_46010342insAAAAAAAAAC , CM000682.2:g.46010341_46010342insAAAAAAAAAC | GRCh38 |
| NC_000020.10:g.44638980_44638981insAAAAAAAAAC , CM000682.1:g.44638980_44638981insAAAAAAAAAC | GRCh37 |
| NC_000020.9:g.44072387_44072388insAAAAAAAAAC | NCBI36 |
| NG_011468.1:g.6434_6435insAAAAAAAAAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372330.3:c.372-142_372-141insAAAAAAAAAC MANE Select | ENSP00000361405.3:n.372-142_372-141insAAAAAAAAAC | |
| NM_004994.2:c.372-142_372-141insAAAAAAAAAC | NP_004985.2:n.372-142_372-141insAAAAAAAAAC | |
| NM_004994.3:c.372-142_372-141insAAAAAAAAAC MANE Select | NP_004985.2:n.372-142_372-141insAAAAAAAAAC |