Linked Data
ClinVar Variation Id:
7222
dbSNP Id:
rs387906378
MyVariant Identifiers:
chr7:g.117267639_117267642dupTCAA (hg19)
chr7:g.117627585_117627588dupTCAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117627585_117627588dup , CM000669.2:g.117627585_117627588dup | GRCh38 |
| NC_000007.13:g.117267639_117267642dup , CM000669.1:g.117267639_117267642dup | GRCh37 |
| NC_000007.12:g.117054875_117054878dup | NCBI36 |
| NG_016465.4:g.166802_166805dup , LRG_663:g.166802_166805dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.3517+15_3517+18dup | ENSP00000497673.2:n.3517+15_3517+18dup | |
| ENST00000647978.2:c.*3246_*3249dup | ENSP00000497658.1:n.*3246_*3249dup | |
| ENST00000649781.2:c.3349_3352dup | ENSP00000497203.1:p.Thr1118IlefsTer17 | |
| ENST00000685018.2:c.3532_3535dup | ENSP00000510194.2:p.Thr1179IlefsTer17 | |
| ENST00000687278.2:c.*185_*188dup | ENSP00000509593.2:n.*185_*188dup | |
| ENST00000699585.1:c.3517+15_3517+18dup | ENSP00000514456.1:n.3517+15_3517+18dup | |
| ENST00000699598.1:c.3532_3535dup | ENSP00000514467.1:p.Thr1179IlefsTer17 | |
| ENST00000699599.1:c.3532_3535dup | ENSP00000514468.1:p.Thr1179IlefsTer17 | |
| ENST00000699600.1:c.*193_*196dup | ENSP00000514469.1:n.*193_*196dup | |
| ENST00000699601.1:c.*1907_*1910dup | ENSP00000514470.1:n.*1907_*1910dup | |
| ENST00000699602.1:c.3526_3529dup | ENSP00000514471.1:p.Thr1177IlefsTer17 | |
| ENST00000699604.1:c.*3356_*3359dup | ENSP00000514472.1:n.*3356_*3359dup | |
| ENST00000699605.1:c.3106_3109dup | ENSP00000514473.1:p.Thr1037IlefsTer17 | |
| ENST00000685018.1:c.280_283dup | ENSP00000510194.1:p.Thr95IlefsTer17 | |
| ENST00000687278.1:c.1319_1322dup | ENSP00000509593.1:n.1319_1322dup | |
| ENST00000689011.1:c.114_117dup | ||
| ENST00000003084.11:c.3532_3535dup MANE Select | ENSP00000003084.6:p.Thr1179IlefsTer17 | |
| ENST00000647720.1:c.1167+15_1167+18dup | ||
| ENST00000648260.1:c.2314_2317dup | ENSP00000497957.1:p.Thr773IlefsTer17 | |
| ENST00000649406.1:c.3349_3352dup | ENSP00000497965.1:p.Thr1118IlefsTer17 | |
| ENST00000649781.1:c.3349_3352dup | ENSP00000497203.1:p.Thr1118IlefsTer17 | |
| ENST00000003084.10:c.3532_3535dup | ENSP00000003084.6:p.Thr1179IlefsTer17 | |
| ENST00000426809.5:c.3442_3445dup | ENSP00000389119.1:p.Thr1149IlefsTer17 | |
| ENST00000468795.1:c.357_360dup | ||
| NM_000492.3:c.3532_3535dup , LRG_663t1:c.3532_3535dup | NP_000483.3:p.Thr1179IlefsTer17 | |
| XM_011515751.1:c.3622_3625dup | XP_011514053.1:p.Thr1209IlefsTer17 | |
| XM_011515752.1:c.3622_3625dup | XP_011514054.1:p.Thr1209IlefsTer17 | |
| XM_011515753.1:c.3289_3292dup | XP_011514055.1:p.Thr1098IlefsTer17 | |
| XM_011515754.1:c.3289_3292dup | XP_011514056.1:p.Thr1098IlefsTer17 | |
| NM_000492.4:c.3532_3535dup MANE Select | NP_000483.3:p.Thr1179IlefsTer17 |