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
dbSNP Id:
rs757738608
ExAC:
17:7126234 T / TCCGA
gnomAD v2:
17-7126234-T-TCCGA
gnomAD v4:
17-7222915-T-TCCGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222917_7222918insGACC , CM000679.2:g.7222917_7222918insGACC | GRCh38 |
| NC_000017.10:g.7126236_7126237insGACC , CM000679.1:g.7126236_7126237insGACC | GRCh37 |
| NC_000017.9:g.7066960_7066961insGACC | NCBI36 |
| NG_007975.1:g.8084_8085insGACC | |
| NG_008391.2:g.2135_2136insTCGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1077+52_1077+53insGACC MANE Select | ENSP00000349297.5:n.1077+52_1077+53insGACC | |
| ENST00000322910.9:c.*1032+52_*1032+53insGACC | ENSP00000325395.5:n.*1032+52_*1032+53insGACC | |
| ENST00000350303.9:c.1011+52_1011+53insGACC | ENSP00000344152.5:n.1011+52_1011+53insGACC | |
| ENST00000356839.9:c.1077+52_1077+53insGACC | ENSP00000349297.5:n.1077+52_1077+53insGACC | |
| ENST00000543245.6:c.1146+52_1146+53insGACC | ENSP00000438689.2:n.1146+52_1146+53insGACC | |
| ENST00000578824.5:n.278_279insGACC | ||
| ENST00000582379.1:n.513_514insGACC | ||
| ENST00000583858.5:c.106+52_106+53insGACC | ||
| ENST00000585203.6:n.70_71insGACC | ||
| NM_000018.3:c.1077+52_1077+53insGACC | NP_000009.1:n.1077+52_1077+53insGACC | |
| NM_001033859.2:c.1011+52_1011+53insGACC | NP_001029031.1:n.1011+52_1011+53insGACC | |
| NM_001270447.1:c.1146+52_1146+53insGACC | NP_001257376.1:n.1146+52_1146+53insGACC | |
| NM_001270448.1:c.849+52_849+53insGACC | NP_001257377.1:n.849+52_849+53insGACC | |
| XM_006721516.2:c.1077+52_1077+53insGACC | XP_006721579.2:n.1077+52_1077+53insGACC | |
| XM_011523829.1:c.1077+52_1077+53insGACC | XP_011522131.1:n.1077+52_1077+53insGACC | |
| XM_011523830.1:c.1077+52_1077+53insGACC | XP_011522132.1:n.1077+52_1077+53insGACC | |
| XR_934021.1:n.1184+52_1184+53insGACC | ||
| XR_934022.1:n.1184+52_1184+53insGACC | ||
| XR_934023.1:n.1184+52_1184+53insGACC | ||
| XM_006721516.3:c.1077+52_1077+53insGACC | XP_006721579.2:n.1077+52_1077+53insGACC | |
| XM_011523829.2:c.1077+52_1077+53insGACC | XP_011522131.1:n.1077+52_1077+53insGACC | |
| XM_011523830.2:c.1077+52_1077+53insGACC | XP_011522132.1:n.1077+52_1077+53insGACC | |
| XM_024450741.1:c.1077+52_1077+53insGACC | XP_024306509.1:n.1077+52_1077+53insGACC | |
| XR_934021.2:n.1136+52_1136+53insGACC | ||
| XR_934022.2:n.1136+52_1136+53insGACC | ||
| XR_934023.2:n.1136+52_1136+53insGACC | ||
| NM_000018.4:c.1077+52_1077+53insGACC MANE Select | NP_000009.1:n.1077+52_1077+53insGACC | |
| NM_001033859.3:c.1011+52_1011+53insGACC | NP_001029031.1:n.1011+52_1011+53insGACC | |
| NM_001270447.2:c.1146+52_1146+53insGACC | NP_001257376.1:n.1146+52_1146+53insGACC | |
| NM_001270448.2:c.849+52_849+53insGACC | NP_001257377.1:n.849+52_849+53insGACC |