Linked Data
dbSNP Id:
rs1567570161
gnomAD v2:
17-7128412-TC-T
gnomAD v4:
17-7225093-TC-T
MyVariant Identifiers:
chr17:g.7128413del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7225094del , CM000679.2:g.7225094del | GRCh38 |
| NC_000017.10:g.7128413del , CM000679.1:g.7128413del | GRCh37 |
| NC_000017.9:g.7069137del | NCBI36 |
| NG_007975.1:g.10261del | |
| NG_033038.1:g.14451del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1965del MANE Select | ENSP00000349297.5:p.Ter656GluextTer24 | |
| ENST00000322910.9:c.*1920del | ENSP00000325395.5:n.*1920del | |
| ENST00000350303.9:c.1899del | ENSP00000344152.5:p.Ter634GluextTer24 | |
| ENST00000356839.9:c.1965del | ENSP00000349297.5:p.Ter656GluextTer24 | |
| ENST00000542255.6:c.844del | ||
| ENST00000543245.6:c.2034del | ENSP00000438689.2:p.Ter679GluextTer24 | |
| ENST00000578033.1:n.390del | ||
| ENST00000578319.5:n.546del | ||
| ENST00000578711.1:n.1590del | ||
| ENST00000578809.5:n.537del | ||
| ENST00000579425.5:n.1081del | ||
| ENST00000583848.5:c.331del | ENSP00000466487.1:n.331del | |
| ENST00000583850.5:n.736del | ||
| ENST00000583858.5:c.896del | ||
| NM_000018.3:c.1965del | NP_000009.1:p.Ter656GluextTer24 | |
| NM_001033859.2:c.1899del | NP_001029031.1:p.Ter634GluextTer24 | |
| NM_001270447.1:c.2034del | NP_001257376.1:p.Ter679GluextTer24 | |
| NM_001270448.1:c.1737del | NP_001257377.1:p.Ter580GluextTer24 | |
| XM_006721516.2:c.1986del | XP_006721579.2:p.Ter663GluextTer24 | |
| XM_011523829.1:c.1884del | XP_011522131.1:p.Ter629GluextTer24 | |
| XM_011523830.1:c.1863del | XP_011522132.1:p.Ter622GluextTer24 | |
| XR_934021.1:n.2068del | ||
| XR_934022.1:n.1974del | ||
| XR_934023.1:n.1995del | ||
| XM_006721516.3:c.1986del | XP_006721579.2:p.Ter663GluextTer24 | |
| XM_011523829.2:c.1884del | XP_011522131.1:p.Ter629GluextTer24 | |
| XM_011523830.2:c.1863del | XP_011522132.1:p.Ter622GluextTer24 | |
| XM_024450741.1:c.1953del | XP_024306509.1:p.Ter652GluextTer24 | |
| XR_934021.2:n.2020del | ||
| XR_934022.2:n.1926del | ||
| XR_934023.2:n.1947del | ||
| NM_000018.4:c.1965del MANE Select | NP_000009.1:p.Ter656GluextTer24 | |
| NM_001033859.3:c.1899del | NP_001029031.1:p.Ter634GluextTer24 | |
| NM_001270447.2:c.2034del | NP_001257376.1:p.Ter679GluextTer24 | |
| NM_001270448.2:c.1737del | NP_001257377.1:p.Ter580GluextTer24 |