Linked Data
gnomAD v4:
4-24800076-C-CCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.24800076_24800077insCT , CM000666.2:g.24800076_24800077insCT | GRCh38 |
| NC_000004.11:g.24801698_24801699insCT , CM000666.1:g.24801698_24801699insCT | GRCh37 |
| NC_000004.10:g.24410796_24410797insCT | NCBI36 |
| NG_012213.1:g.9614_9615insCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382120.4:c.555_556insCT MANE Select | ENSP00000371554.3:p.Asp186LeufsTer? | |
| ENST00000382120.3:c.555_556insCT | ENSP00000371554.3:p.Asp186LeufsTer? | |
| NM_003102.2:c.555_556insCT | NP_003093.2:p.Asp186LeufsTer? | |
| XR_427488.1:n.745_746insCT | ||
| NM_003102.3:c.555_556insCT | NP_003093.2:p.Asp186LeufsTer? | |
| NM_003102.4:c.555_556insCT MANE Select | NP_003093.2:p.Asp186LeufsTer? |