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:
189665
dbSNP Id:
rs786205019
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154030644_154030664delinsTGCTCAAGTCCTGGGGCTCAG , CM000685.2:g.154030644_154030664delinsTGCTCAAGTCCTGGGGCTCAG | GRCh38 |
| NC_000023.10:g.153296095_153296115delinsTGCTCAAGTCCTGGGGCTCAG , CM000685.1:g.153296095_153296115delinsTGCTCAAGTCCTGGGGCTCAG | GRCh37 |
| NC_000023.9:g.152949289_152949309delinsTGCTCAAGTCCTGGGGCTCAG | NCBI36 |
| NG_007107.2:g.111464_111484delinsCTGAGCCCCAGGACTTGAGCA | |
| NG_007107.3:g.111440_111460delinsCTGAGCCCCAGGACTTGAGCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303391.11:c.1164_1184delinsCTGAGCCCCAGGACTTGAGCA MANE Plus Clinical | ENSP00000301948.6:p.Pro389Ter | |
| ENST00000453960.7:c.1200_1220delinsCTGAGCCCCAGGACTTGAGCA MANE Select | ENSP00000395535.2:p.Pro401Ter | |
| ENST00000303391.10:c.1164_1184delinsCTGAGCCCCAGGACTTGAGCA | ENSP00000301948.6:p.Pro389Ter | |
| ENST00000407218.5:c.*536_*556delinsCTGAGCCCCAGGACTTGAGCA | ENSP00000384865.2:n.*536_*556delinsCTGAGCCCCAGGACTTGAGCA | |
| ENST00000453960.6:c.1200_1220delinsCTGAGCCCCAGGACTTGAGCA | ENSP00000395535.2:p.Pro401Ter | |
| ENST00000619732.4:c.1164_1184delinsCTGAGCCCCAGGACTTGAGCA | ENSP00000480973.1:p.Pro389Ter | |
| ENST00000628176.2:c.*536_*556delinsCTGAGCCCCAGGACTTGAGCA | ENSP00000486978.1:n.*536_*556delinsCTGAGCCCCAGGACTTGAGCA | |
| NM_001110792.1:c.1200_1220delinsCTGAGCCCCAGGACTTGAGCA | NP_001104262.1:p.Pro401Ter | |
| NM_001316337.1:c.885_905delinsCTGAGCCCCAGGACTTGAGCA | NP_001303266.1:p.Pro296Ter | |
| NM_004992.3:c.1164_1184delinsCTGAGCCCCAGGACTTGAGCA | NP_004983.1:p.Pro389Ter | |
| XM_005274681.3:c.1164_1184delinsCTGAGCCCCAGGACTTGAGCA | XP_005274738.1:p.Pro389Ter | |
| XM_005274682.3:c.885_905delinsCTGAGCCCCAGGACTTGAGCA | XP_005274739.1:p.Pro296Ter | |
| XM_005274683.3:c.885_905delinsCTGAGCCCCAGGACTTGAGCA | XP_005274740.1:p.Pro296Ter | |
| XM_006724819.2:c.495_515delinsCTGAGCCCCAGGACTTGAGCA | XP_006724882.1:p.Pro166Ter | |
| XM_011531166.1:c.885_905delinsCTGAGCCCCAGGACTTGAGCA | XP_011529468.1:p.Pro296Ter | |
| XM_006724819.3:c.495_515delinsCTGAGCCCCAGGACTTGAGCA | XP_006724882.1:p.Pro166Ter | |
| XM_011531166.2:c.885_905delinsCTGAGCCCCAGGACTTGAGCA | XP_011529468.1:p.Pro296Ter | |
| XM_024452383.1:c.885_905delinsCTGAGCCCCAGGACTTGAGCA | XP_024308151.1:p.Pro296Ter | |
| XM_024452384.1:c.885_905delinsCTGAGCCCCAGGACTTGAGCA | XP_024308152.1:p.Pro296Ter | |
| NM_001110792.2:c.1200_1220delinsCTGAGCCCCAGGACTTGAGCA MANE Select | NP_001104262.1:p.Pro401Ter | |
| NM_001316337.2:c.885_905delinsCTGAGCCCCAGGACTTGAGCA | NP_001303266.1:p.Pro296Ter | |
| NM_001369391.2:c.885_905delinsCTGAGCCCCAGGACTTGAGCA | NP_001356320.1:p.Pro296Ter | |
| NM_001369392.2:c.885_905delinsCTGAGCCCCAGGACTTGAGCA | NP_001356321.1:p.Pro296Ter | |
| NM_001369393.2:c.885_905delinsCTGAGCCCCAGGACTTGAGCA | NP_001356322.1:p.Pro296Ter | |
| NM_001369394.1:c.885_905delinsCTGAGCCCCAGGACTTGAGCA | NP_001356323.1:p.Pro296Ter | |
| NM_001369394.2:c.885_905delinsCTGAGCCCCAGGACTTGAGCA | NP_001356323.1:p.Pro296Ter | |
| NM_001386137.1:c.495_515delinsCTGAGCCCCAGGACTTGAGCA | NP_001373066.1:p.Pro166Ter | |
| NM_001386138.1:c.495_515delinsCTGAGCCCCAGGACTTGAGCA | NP_001373067.1:p.Pro166Ter | |
| NM_001386139.1:c.495_515delinsCTGAGCCCCAGGACTTGAGCA | NP_001373068.1:p.Pro166Ter | |
| NM_004992.4:c.1164_1184delinsCTGAGCCCCAGGACTTGAGCA MANE Plus Clinical | NP_004983.1:p.Pro389Ter |