Linked Data
gnomAD v4:
10-80273491-G-GTGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80273491_80273492insTGT , CM000672.2:g.80273491_80273492insTGT | GRCh38 |
| NC_000010.10:g.82033247_82033248insTGT , CM000672.1:g.82033247_82033248insTGT | GRCh37 |
| NC_000010.9:g.82023227_82023228insTGT | NCBI36 |
| NG_008083.1:g.21187_21188insACA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.*289_*290insACA MANE Select | ENSP00000361287.3:n.*289_*290insACA | |
| ENST00000372213.7:c.*289_*290insACA | ENSP00000361287.3:n.*289_*290insACA | |
| ENST00000480845.1:n.620+89_620+90insACA | ||
| ENST00000485270.5:n.989_990insACA | ||
| NM_000429.2:c.*289_*290insACA | NP_000420.1:n.*289_*290insACA | |
| XM_005269842.3:c.*289_*290insACA | XP_005269899.1:n.*289_*290insACA | |
| XM_005269843.3:c.*289_*290insACA | XP_005269900.1:n.*289_*290insACA | |
| NM_000429.3:c.*289_*290insACA MANE Select | NP_000420.1:n.*289_*290insACA |