Linked Data
gnomAD v4:
17-63942044-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63942045_63942046del , CM000679.2:g.63942045_63942046del | GRCh38 |
| NC_000017.10:g.62019405_62019406del , CM000679.1:g.62019405_62019406del | GRCh37 |
| NC_000017.9:g.59373137_59373138del | NCBI36 |
| NG_011699.1:g.35873_35874del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.4289-53_4289-52del MANE Select | ENSP00000396320.1:n.4289-53_4289-52del | |
| ENST00000578147.5:c.4289-53_4289-52del | ENSP00000463963.1:n.4289-53_4289-52del | |
| NM_000334.4:c.4289-53_4289-52del MANE Select | NP_000325.4:n.4289-53_4289-52del | |
| XM_005257566.3:c.4289-53_4289-52del | XP_005257623.1:n.4289-53_4289-52del |