Linked Data
gnomAD v4:
3-129529115-GGGT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129529117_129529119del , CM000665.2:g.129529117_129529119del | GRCh38 |
| NC_000003.11:g.129247960_129247962del , CM000665.1:g.129247960_129247962del | GRCh37 |
| NC_000003.10:g.130730650_130730652del | NCBI36 |
| NG_009115.1:g.5479_5481del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.361+23_361+25del MANE Select | ENSP00000296271.3:n.361+23_361+25del | |
| ENST00000296271.3:c.361+23_361+25del | ENSP00000296271.3:n.361+23_361+25del | |
| NM_000539.3:c.361+23_361+25del MANE Select | NP_000530.1:n.361+23_361+25del |