Linked Data
ClinVar Variation Id:
3889
dbSNP Id:
rs387906309
ExAC:
15:72638920 G / GGATA
gnomAD v2:
15-72638920-G-GGATA
gnomAD v3:
15-72346579-G-GGATA
gnomAD v4:
15-72346579-G-GGATA
MyVariant Identifiers:
chr15:g.72638921_72638924dup (hg19)
chr15:g.72638921_72638924dupGATA (hg19)
chr15:g.72638920_72638921insGATA (hg19)
chr15:g.72346580_72346583dupGATA (hg38)
chr15:g.72346579_72346580insGATA (hg38)
PubMed:
PMID:1301938
PMID:1307230
PMID:1830584
PMID:2294750
PMID:2824459
PMID:2848800
PMID:3754980
PMID:8230592
PMID:8352284
PMID:8488832
PMID:9073025
PMID:10571007
PMID:12108829
PMID:14727180
PMID:15714079
PMID:16088929
PMID:16199656
PMID:17412732
PMID:19330222
PMID:19858779
PMID:20301397
PMID:20672374
PMID:21228398
PMID:22025593
PMID:22441121
PMID:22723944
PMID:22789865
PMID:22975760
PMID:23852624
PMID:24374108
PMID:24518553
PMID:25287655
PMID:25557439
PMID:27033294
PMID:27896118
PMID:27959697
PMID:28503624
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72346580_72346583dup , CM000677.2:g.72346580_72346583dup | GRCh38 |
| NC_000015.9:g.72638921_72638924dup , CM000677.1:g.72638921_72638924dup | GRCh37 |
| NC_000015.8:g.70425975_70425978dup | NCBI36 |
| NG_009017.1:g.34597_34600dup | |
| NG_009017.2:g.34597_34600dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567027.6:c.1074-258_1074-255dup | ENSP00000457521.2:n.1074-258_1074-255dup | |
| ENST00000682061.1:c.*936_*939dup | ENSP00000508316.1:n.*936_*939dup | |
| ENST00000682064.1:n.616_619dup | ||
| ENST00000682177.1:c.1317_1320dup | ENSP00000507409.1:n.1317_1320dup | |
| ENST00000682235.1:n.613_616dup | ||
| ENST00000682461.1:c.1380_1383dup | ENSP00000507308.1:n.1380_1383dup | |
| ENST00000682653.1:n.1594_1597dup | ||
| ENST00000682657.1:c.*484-258_*484-255dup | ENSP00000507753.1:n.*484-258_*484-255dup | |
| ENST00000682721.1:c.*1077_*1080dup | ENSP00000507535.1:n.*1077_*1080dup | |
| ENST00000682843.1:c.*972-258_*972-255dup | ENSP00000508173.1:n.*972-258_*972-255dup | |
| ENST00000683003.1:c.*484-258_*484-255dup | ENSP00000507576.1:n.*484-258_*484-255dup | |
| ENST00000683133.1:c.1458_1461dup | ENSP00000508108.1:n.1458_1461dup | |
| ENST00000683243.1:c.*484-258_*484-255dup | ENSP00000507042.1:n.*484-258_*484-255dup | |
| ENST00000683463.1:c.*79_*82dup | ENSP00000507986.1:n.*79_*82dup | |
| ENST00000683548.1:n.1105-258_1105-255dup | ||
| ENST00000683579.1:c.*1172_*1175dup | ENSP00000506867.1:n.*1172_*1175dup | |
| ENST00000683587.1:n.1178-258_1178-255dup | ||
| ENST00000683681.1:c.1274_1277dup | ENSP00000508110.1:p.Tyr427IlefsTer5 | |
| ENST00000683735.1:c.*1045-258_*1045-255dup | ENSP00000508336.1:n.*1045-258_*1045-255dup | |
| ENST00000683853.1:c.*79_*82dup | ENSP00000506834.1:n.*79_*82dup | |
| ENST00000683860.1:c.1274_1277dup | ENSP00000507179.1:p.Tyr427IlefsTer5 | |
| ENST00000683884.1:c.1147-258_1147-255dup | ENSP00000507004.1:n.1147-258_1147-255dup | |
| ENST00000684041.1:c.1274_1277dup | ENSP00000508382.1:p.Tyr427IlefsTer5 | |
| ENST00000684125.1:c.1074-258_1074-255dup | ENSP00000507320.1:n.1074-258_1074-255dup | |
| ENST00000684203.1:n.3039_3042dup | ||
| ENST00000684231.1:c.*684_*687dup | ENSP00000507748.1:n.*684_*687dup | |
| ENST00000684263.1:c.*214_*217dup | ENSP00000508369.1:n.*214_*217dup | |
| ENST00000684305.1:c.1722_1725dup | ENSP00000506819.1:n.1722_1725dup | |
| ENST00000684415.1:c.*141_*144dup | ENSP00000507227.1:n.*141_*144dup | |
| ENST00000684520.1:c.1274_1277dup | ENSP00000506826.1:p.Tyr427IlefsTer5 | |
| ENST00000684602.1:c.*940_*943dup | ENSP00000507996.1:n.*940_*943dup | |
| ENST00000684667.1:c.1605_1608dup | ENSP00000507003.1:n.1605_1608dup | |
| ENST00000268097.10:c.1274_1277dup MANE Select | ENSP00000268097.6:p.Tyr427IlefsTer5 | |
| ENST00000268097.9:c.1274_1277dup | ENSP00000268097.5:p.Tyr427IlefsTer5 | |
| ENST00000379915.4:c.413-258_413-255dup | ENSP00000478716.1:n.413-258_413-255dup | |
| ENST00000563762.5:c.826-258_826-255dup | ENSP00000456346.1:n.826-258_826-255dup | |
| ENST00000566304.5:c.1307_1310dup | ENSP00000455114.1:p.Tyr438IlefsTer5 | |
| ENST00000566672.5:c.*684_*687dup | ENSP00000457037.1:n.*684_*687dup | |
| ENST00000567027.5:c.946-258_946-255dup | ||
| ENST00000567159.5:c.1274_1277dup | ENSP00000456489.1:p.Tyr427IlefsTer5 | |
| ENST00000567411.5:c.*795_*798dup | ENSP00000455545.1:n.*795_*798dup | |
| ENST00000568777.5:n.6551-258_6551-255dup | ||
| ENST00000569410.5:c.*79_*82dup | ENSP00000457125.1:n.*79_*82dup | |
| NM_000520.4:c.1274_1277dup | NP_000511.2:p.Tyr427IlefsTer5 | |
| NM_000520.5:c.1274_1277dup | NP_000511.2:p.Tyr427IlefsTer5 | |
| NM_001318825.1:c.1307_1310dup | NP_001305754.1:p.Tyr438IlefsTer5 | |
| NR_134869.1:n.1575-258_1575-255dup | ||
| NM_000520.6:c.1274_1277dup MANE Select | NP_000511.2:p.Tyr427IlefsTer5 | |
| NM_001318825.2:c.1307_1310dup | NP_001305754.1:p.Tyr438IlefsTer5 | |
| NR_134869.2:n.1116-258_1116-255dup | ||
| NR_134869.3:n.1116-258_1116-255dup |