Linked Data
gnomAD v4:
5-148827598-ATGGAC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148827600_148827604del , CM000667.2:g.148827600_148827604del | GRCh38 |
| NC_000005.9:g.148207163_148207167del , CM000667.1:g.148207163_148207167del | GRCh37 |
| NC_000005.8:g.148187356_148187360del | NCBI36 |
| NG_016421.1:g.6008_6012del | |
| NG_016421.2:g.6008_6012del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305988.6:c.769_773del MANE Select | ENSP00000305372.4:p.Gly257ProfsTer? | |
| ENST00000305988.5:c.769_773del | ENSP00000305372.4:p.Gly257ProfsTer? | |
| NM_000024.5:c.769_773del | NP_000015.1:p.Gly257ProfsTer? | |
| NM_000024.6:c.769_773del MANE Select | NP_000015.2:p.Gly257ProfsTer? |