SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Linked Data
ClinVar Variation Id:
1726481
ClinVar RCV Id:
RCV002310165
dbSNP Id:
rs774196978
ExAC:
17:7127823 GC / G
gnomAD v2:
17-7127823-GC-G
MyVariant Identifiers:
chr17:g.7127824del (hg19)
chr17:g.7224506del (hg38)
chr17:g.7224505del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224506del , CM000679.2:g.7224506del | GRCh38 |
| NC_000017.10:g.7127825del , CM000679.1:g.7127825del | GRCh37 |
| NC_000017.9:g.7068549del | NCBI36 |
| NG_007975.1:g.9673del | |
| NG_008391.2:g.546del | |
| NG_033038.1:g.15040del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1632del MANE Select | ENSP00000349297.5:p.Thr545LeufsTer7 | |
| ENST00000322910.9:c.*1587del | ENSP00000325395.5:n.*1587del | |
| ENST00000350303.9:c.1566del | ENSP00000344152.5:p.Thr523LeufsTer7 | |
| ENST00000356839.9:c.1632del | ENSP00000349297.5:p.Thr545LeufsTer7 | |
| ENST00000542255.6:c.490del | ||
| ENST00000543245.6:c.1701del | ENSP00000438689.2:p.Thr568LeufsTer7 | |
| ENST00000578319.5:n.213del | ||
| ENST00000578711.1:n.1002del | ||
| ENST00000578809.5:n.204del | ||
| ENST00000579391.1:n.236del | ||
| ENST00000579425.5:n.748del | ||
| ENST00000579546.1:c.367del | ||
| ENST00000579894.5:n.419del | ||
| ENST00000582450.1:n.140del | ||
| ENST00000583074.5:n.253del | ||
| ENST00000583848.5:c.18del | ENSP00000466487.1:p.Thr7LeufsTer7 | |
| ENST00000583850.5:n.403del | ||
| ENST00000583858.5:c.563del | ||
| ENST00000585203.6:n.823del | ||
| NM_000018.3:c.1632del | NP_000009.1:p.Thr545LeufsTer7 | |
| NM_001033859.2:c.1566del | NP_001029031.1:p.Thr523LeufsTer7 | |
| NM_001270447.1:c.1701del | NP_001257376.1:p.Thr568LeufsTer7 | |
| NM_001270448.1:c.1404del | NP_001257377.1:p.Thr469LeufsTer7 | |
| XM_006721516.2:c.1632del | XP_006721579.2:p.Thr545LeufsTer7 | |
| XM_011523829.1:c.1530del | XP_011522131.1:p.Thr511LeufsTer7 | |
| XM_011523830.1:c.1530del | XP_011522132.1:p.Thr511LeufsTer7 | |
| XR_934021.1:n.1735del | ||
| XR_934022.1:n.1641del | ||
| XR_934023.1:n.1641del | ||
| XM_006721516.3:c.1632del | XP_006721579.2:p.Thr545LeufsTer7 | |
| XM_011523829.2:c.1530del | XP_011522131.1:p.Thr511LeufsTer7 | |
| XM_011523830.2:c.1530del | XP_011522132.1:p.Thr511LeufsTer7 | |
| XM_024450741.1:c.1620del | XP_024306509.1:p.Thr541LeufsTer7 | |
| XR_934021.2:n.1687del | ||
| XR_934022.2:n.1593del | ||
| XR_934023.2:n.1593del | ||
| NM_000018.4:c.1632del MANE Select | NP_000009.1:p.Thr545LeufsTer7 | |
| NM_001033859.3:c.1566del | NP_001029031.1:p.Thr523LeufsTer7 | |
| NM_001270447.2:c.1701del | NP_001257376.1:p.Thr568LeufsTer7 | |
| NM_001270448.2:c.1404del | NP_001257377.1:p.Thr469LeufsTer7 |