Linked Data
dbSNP Id:
rs763961085
ExAC:
9:2650383 TGAA / T
gnomAD v2:
9-2650383-TGAA-T
gnomAD v3:
9-2650383-TGAA-T
gnomAD v4:
9-2650383-TGAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2650389_2650391del , CM000671.2:g.2650389_2650391del | GRCh38 |
| NC_000009.11:g.2650389_2650391del , CM000671.1:g.2650389_2650391del | GRCh37 |
| NC_000009.10:g.2640389_2640391del | NCBI36 |
| NG_012741.1:g.33597_33599del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382099.3:c.1682_1684del | ||
| ENST00000382100.8:c.2124_2126del MANE Select | ENSP00000371532.2:p.Glu708del | |
| ENST00000679488.1:n.1550_1552del | ||
| ENST00000679718.1:n.1360_1362del | ||
| ENST00000679750.1:n.1540_1542del | ||
| ENST00000679780.1:n.900_902del | ||
| ENST00000679851.1:n.2923_2925del | ||
| ENST00000680021.1:n.2324_2326del | ||
| ENST00000680043.1:c.1676_1678del | ||
| ENST00000680219.1:c.1691_1693del | ||
| ENST00000680243.1:c.*1763_*1765del | ENSP00000505911.1:n.*1763_*1765del | |
| ENST00000680296.1:c.1550_1552del | ||
| ENST00000680332.1:n.1757_1759del | ||
| ENST00000680440.1:n.264_266del | ||
| ENST00000680746.1:c.2001_2003del | ENSP00000505030.1:p.Glu667del | |
| ENST00000680751.1:n.1529_1531del | ||
| ENST00000680891.1:c.*1916_*1918del | ENSP00000505167.1:n.*1916_*1918del | |
| ENST00000680975.1:n.1509_1511del | ||
| ENST00000681087.1:n.1429_1431del | ||
| ENST00000681306.1:c.2124_2126del | ENSP00000506072.1:p.Glu708del | |
| ENST00000681486.1:n.224_226del | ||
| ENST00000681618.1:c.2001_2003del | ENSP00000505773.1:p.Glu667del | |
| ENST00000681644.1:c.*1796_*1798del | ENSP00000505180.1:n.*1796_*1798del | |
| ENST00000681806.1:c.*562_*564del | ENSP00000505282.1:n.*562_*564del | |
| ENST00000681942.1:c.1607_1609del | ||
| ENST00000382099.2:c.2124_2126del | ENSP00000371531.2:p.Glu708del | |
| ENST00000382100.7:c.2124_2126del | ENSP00000371532.2:p.Glu708del | |
| NM_001018056.1:c.2124_2126del | NP_001018066.1:p.Glu708del | |
| NM_003383.3:c.2124_2126del | NP_003374.3:p.Glu708del | |
| XM_011518029.1:c.2001_2003del | XP_011516331.1:p.Glu667del | |
| NM_001018056.2:c.2124_2126del | NP_001018066.1:p.Glu708del | |
| NM_001322225.1:c.2001_2003del | NP_001309154.1:p.Glu667del | |
| NM_001322226.1:c.2001_2003del | NP_001309155.1:p.Glu667del | |
| NM_003383.4:c.2124_2126del | NP_003374.3:p.Glu708del | |
| XR_001746373.2:n.2463_2465del | ||
| XR_002956805.1:n.2463_2465del | ||
| NM_003383.5:c.2124_2126del MANE Select | NP_003374.3:p.Glu708del | |
| NM_001018056.3:c.2124_2126del | NP_001018066.1:p.Glu708del | |
| NM_001322225.2:c.2001_2003del | NP_001309154.1:p.Glu667del | |
| NM_001322226.2:c.2001_2003del | NP_001309155.1:p.Glu667del |