Linked Data
gnomAD v4:
17-63944523-G-GAGAGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63944523_63944524insAGAGA , CM000679.2:g.63944523_63944524insAGAGA | GRCh38 |
| NC_000017.10:g.62021883_62021884insAGAGA , CM000679.1:g.62021883_62021884insAGAGA | GRCh37 |
| NC_000017.9:g.59375615_59375616insAGAGA | NCBI36 |
| NG_011699.1:g.33395_33396insTCTCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.3912+149_3912+150insTCTCT MANE Select | ENSP00000396320.1:n.3912+149_3912+150insTCTCT | |
| ENST00000578147.5:c.3916+145_3916+146insTCTCT | ENSP00000463963.1:n.3916+145_3916+146insTCTCT | |
| NM_000334.4:c.3912+149_3912+150insTCTCT MANE Select | NP_000325.4:n.3912+149_3912+150insTCTCT | |
| XM_005257566.3:c.3912+149_3912+150insTCTCT | XP_005257623.1:n.3912+149_3912+150insTCTCT |