SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.
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.
This migration is underway but taking longer than originally estimated.
Linked Data
ClinVar Variation Id:
555781
dbSNP Id:
rs754325237
ExAC:
17:7126168 GCAT / G
gnomAD v2:
17-7126168-GCAT-G
gnomAD v3:
17-7222849-GCAT-G
gnomAD v4:
17-7222849-GCAT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222853_7222855del , CM000679.2:g.7222853_7222855del | GRCh38 |
| NC_000017.10:g.7126172_7126174del , CM000679.1:g.7126172_7126174del | GRCh37 |
| NC_000017.9:g.7066896_7066898del | NCBI36 |
| NG_007975.1:g.8020_8022del | |
| NG_008391.2:g.2199_2201del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1065_1067del MANE Select | ENSP00000349297.5:p.Ile356del | |
| ENST00000322910.9:c.*1020_*1022del | ENSP00000325395.5:n.*1020_*1022del | |
| ENST00000350303.9:c.999_1001del | ENSP00000344152.5:p.Ile334del | |
| ENST00000356839.9:c.1065_1067del | ENSP00000349297.5:p.Ile356del | |
| ENST00000543245.6:c.1134_1136del | ENSP00000438689.2:p.Ile379del | |
| ENST00000578824.5:n.214_216del | ||
| ENST00000582379.1:n.449_451del | ||
| ENST00000583858.5:c.94_96del | ||
| ENST00000585203.6:n.6_8del | ||
| NM_000018.3:c.1065_1067del | NP_000009.1:p.Ile356del | |
| NM_001033859.2:c.999_1001del | NP_001029031.1:p.Ile334del | |
| NM_001270447.1:c.1134_1136del | NP_001257376.1:p.Ile379del | |
| NM_001270448.1:c.837_839del | NP_001257377.1:p.Ile280del | |
| XM_006721516.2:c.1065_1067del | XP_006721579.2:p.Ile356del | |
| XM_011523829.1:c.1065_1067del | XP_011522131.1:p.Ile356del | |
| XM_011523830.1:c.1065_1067del | XP_011522132.1:p.Ile356del | |
| XR_934021.1:n.1172_1174del | ||
| XR_934022.1:n.1172_1174del | ||
| XR_934023.1:n.1172_1174del | ||
| XM_006721516.3:c.1065_1067del | XP_006721579.2:p.Ile356del | |
| XM_011523829.2:c.1065_1067del | XP_011522131.1:p.Ile356del | |
| XM_011523830.2:c.1065_1067del | XP_011522132.1:p.Ile356del | |
| XM_024450741.1:c.1065_1067del | XP_024306509.1:p.Ile356del | |
| XR_934021.2:n.1124_1126del | ||
| XR_934022.2:n.1124_1126del | ||
| XR_934023.2:n.1124_1126del | ||
| NM_000018.4:c.1065_1067del MANE Select | NP_000009.1:p.Ile356del | |
| NM_001033859.3:c.999_1001del | NP_001029031.1:p.Ile334del | |
| NM_001270447.2:c.1134_1136del | NP_001257376.1:p.Ile379del | |
| NM_001270448.2:c.837_839del | NP_001257377.1:p.Ile280del |