Linked Data
gnomAD v4:
10-80273489-G-GCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80273489_80273490insCT , CM000672.2:g.80273489_80273490insCT | GRCh38 |
| NC_000010.10:g.82033245_82033246insCT , CM000672.1:g.82033245_82033246insCT | GRCh37 |
| NC_000010.9:g.82023225_82023226insCT | NCBI36 |
| NG_008083.1:g.21189_21190insAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.*291_*292insAG MANE Select | ENSP00000361287.3:n.*291_*292insAG | |
| ENST00000372213.7:c.*291_*292insAG | ENSP00000361287.3:n.*291_*292insAG | |
| ENST00000480845.1:n.620+91_620+92insAG | ||
| ENST00000485270.5:n.991_992insAG | ||
| NM_000429.2:c.*291_*292insAG | NP_000420.1:n.*291_*292insAG | |
| XM_005269842.3:c.*291_*292insAG | XP_005269899.1:n.*291_*292insAG | |
| XM_005269843.3:c.*291_*292insAG | XP_005269900.1:n.*291_*292insAG | |
| NM_000429.3:c.*291_*292insAG MANE Select | NP_000420.1:n.*291_*292insAG |