Linked Data
gnomAD v4:
17-63944547-TGCCTGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63944548_63944553del , CM000679.2:g.63944548_63944553del | GRCh38 |
| NC_000017.10:g.62021908_62021913del , CM000679.1:g.62021908_62021913del | GRCh37 |
| NC_000017.9:g.59375640_59375645del | NCBI36 |
| NG_011699.1:g.33366_33371del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.3912+120_3912+125del MANE Select | ENSP00000396320.1:n.3912+120_3912+125del | |
| ENST00000578147.5:c.3916+116_3916+121del | ENSP00000463963.1:n.3916+116_3916+121del | |
| NM_000334.4:c.3912+120_3912+125del MANE Select | NP_000325.4:n.3912+120_3912+125del | |
| XM_005257566.3:c.3912+120_3912+125del | XP_005257623.1:n.3912+120_3912+125del |