Linked Data
ClinVar Variation Id:
1511754
dbSNP Id:
rs749010290
ExAC:
12:88484555 ATTG / A
gnomAD v2:
12-88484555-ATTG-A
gnomAD v3:
12-88090778-ATTG-A
gnomAD v4:
12-88090778-ATTG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88090786_88090788del , CM000674.2:g.88090786_88090788del | GRCh38 |
| NC_000012.11:g.88484563_88484565del , CM000674.1:g.88484563_88484565del | GRCh37 |
| NC_000012.10:g.87008694_87008696del | NCBI36 |
| NG_008417.1:g.56436_56438del | |
| NG_008417.2:g.56436_56438del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309041.12:c.3520_3522del | ENSP00000308021.8:p.Gln1174del | |
| ENST00000547691.8:c.804_806del | ||
| ENST00000552810.6:c.3520_3522del MANE Select | ENSP00000448012.1:p.Gln1174del | |
| ENST00000672414.2:c.*1691_*1693del | ENSP00000500729.1:n.*1691_*1693del | |
| ENST00000672647.1:n.1880_1882del | ||
| ENST00000673058.2:c.3520_3522del | ENSP00000500665.2:p.Gln1174del | |
| ENST00000674971.1:c.3520_3522del | ENSP00000502194.1:p.Gln1174del | |
| ENST00000675089.1:c.345_347del | ENSP00000501582.1:n.345_347del | |
| ENST00000675230.1:c.3499_3501del | ENSP00000502503.1:p.Gln1167del | |
| ENST00000675408.1:c.3520_3522del | ENSP00000502298.1:p.Gln1174del | |
| ENST00000675476.1:c.4381_4383del | ENSP00000502161.1:p.Gln1461del | |
| ENST00000675628.1:n.3747_3749del | ||
| ENST00000675794.1:c.*1691_*1693del | ENSP00000502841.1:n.*1691_*1693del | |
| ENST00000675833.1:c.4288_4290del | ENSP00000502559.1:p.Gln1430del | |
| ENST00000676074.1:c.3520_3522del | ENSP00000502079.1:p.Gln1174del | |
| ENST00000676181.1:n.1208_1210del | ||
| ENST00000676363.1:n.9246_9248del | ||
| ENST00000676448.1:c.*1433_*1435del | ENSP00000501987.1:n.*1433_*1435del | |
| ENST00000309041.11:c.3526_3528del | ENSP00000308021.7:p.Gln1176del | |
| ENST00000547691.6:c.700_702del | ENSP00000446905.1:p.Gln234del | |
| ENST00000552810.5:c.3520_3522del | ENSP00000448012.1:p.Gln1174del | |
| NM_025114.3:c.3520_3522del | NP_079390.3:p.Gln1174del | |
| XM_011538756.1:c.4381_4383del | XP_011537058.1:p.Gln1461del | |
| XM_011538757.1:c.4381_4383del | XP_011537059.1:p.Gln1461del | |
| XM_011538758.1:c.4381_4383del | XP_011537060.1:p.Gln1461del | |
| XM_011538759.1:c.4381_4383del | XP_011537061.1:p.Gln1461del | |
| XM_011538760.1:c.4381_4383del | XP_011537062.1:p.Gln1461del | |
| XM_011538761.1:c.4381_4383del | XP_011537063.1:p.Gln1461del | |
| XM_011538762.1:c.3613_3615del | XP_011537064.1:p.Gln1205del | |
| XM_011538763.1:c.3520_3522del | XP_011537065.1:p.Gln1174del | |
| XM_011538764.1:c.4381_4383del | XP_011537066.1:p.Gln1461del | |
| XM_011538765.1:c.4381_4383del | XP_011537067.1:p.Gln1461del | |
| XM_011538766.1:c.2842_2844del | XP_011537068.1:p.Gln948del | |
| XM_011538756.3:c.4381_4383del | XP_011537058.1:p.Gln1461del | |
| XM_011538757.3:c.4381_4383del | XP_011537059.1:p.Gln1461del | |
| XM_011538758.3:c.4381_4383del | XP_011537060.1:p.Gln1461del | |
| XM_011538759.2:c.4381_4383del | XP_011537061.1:p.Gln1461del | |
| XM_011538760.2:c.4381_4383del | XP_011537062.1:p.Gln1461del | |
| XM_011538761.2:c.4381_4383del | XP_011537063.1:p.Gln1461del | |
| XM_011538762.3:c.3613_3615del | XP_011537064.1:p.Gln1205del | |
| XM_011538763.3:c.3520_3522del | XP_011537065.1:p.Gln1174del | |
| XM_011538764.3:c.4381_4383del | XP_011537066.1:p.Gln1461del | |
| XM_011538765.3:c.4381_4383del | XP_011537067.1:p.Gln1461del | |
| XM_011538766.3:c.2842_2844del | XP_011537068.1:p.Gln948del | |
| XM_017019980.2:c.4381_4383del | XP_016875469.1:p.Gln1461del | |
| XM_017019981.2:c.4381_4383del | XP_016875470.1:p.Gln1461del | |
| XM_017019982.1:c.4381_4383del | XP_016875471.1:p.Gln1461del | |
| XM_017019983.2:c.3499_3501del | XP_016875472.1:p.Gln1167del | |
| XR_001748869.1:n.4725_4727del | ||
| XR_001748870.2:n.4725_4727del | ||
| NM_025114.4:c.3520_3522del MANE Select | NP_079390.3:p.Gln1174del |