Linked Data
dbSNP Id:
rs1567816679
gnomAD v2:
17-62019620-TGTGTGTGTGTG-T
gnomAD v3:
17-63942260-TGTGTGTGTGTG-T
gnomAD v4:
17-63942260-TGTGTGTGTGTG-T
MyVariant Identifiers:
chr17:g.62019621_62019633delinsTG (hg19)
chr17:g.63942261_63942273delinsTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63942261_63942271del , CM000679.2:g.63942261_63942271del | GRCh38 |
| NC_000017.10:g.62019621_62019631del , CM000679.1:g.62019621_62019631del | GRCh37 |
| NC_000017.9:g.59373353_59373363del | NCBI36 |
| NG_011699.1:g.35648_35658del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.4289-278_4289-268del MANE Select | ENSP00000396320.1:n.4289-278_4289-268del | |
| ENST00000578147.5:c.4289-278_4289-268del | ENSP00000463963.1:n.4289-278_4289-268del | |
| NM_000334.4:c.4289-278_4289-268del MANE Select | NP_000325.4:n.4289-278_4289-268del | |
| XM_005257566.3:c.4289-278_4289-268del | XP_005257623.1:n.4289-278_4289-268del |