Linked Data
dbSNP Id:
rs1248018077
gnomAD v2:
15-72639622-TGG-T
gnomAD v3:
15-72347281-TGG-T
gnomAD v4:
15-72347281-TGG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72347282_72347283del , CM000677.2:g.72347282_72347283del | GRCh38 |
| NC_000015.9:g.72639623_72639624del , CM000677.1:g.72639623_72639624del | GRCh37 |
| NC_000015.8:g.70426677_70426678del | NCBI36 |
| NG_009017.1:g.33897_33898del | |
| NG_009017.2:g.33897_33898del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567027.6:c.1073+765_1073+766del | ENSP00000457521.2:n.1073+765_1073+766del | |
| ENST00000682061.1:c.*808+403_*808+404del | ENSP00000508316.1:n.*808+403_*808+404del | |
| ENST00000682177.1:c.1189+403_1189+404del | ENSP00000507409.1:n.1189+403_1189+404del | |
| ENST00000682461.1:c.1252+403_1252+404del | ENSP00000507308.1:n.1252+403_1252+404del | |
| ENST00000682653.1:n.1466+403_1466+404del | ||
| ENST00000682657.1:c.*483+765_*483+766del | ENSP00000507753.1:n.*483+765_*483+766del | |
| ENST00000682721.1:c.*949+403_*949+404del | ENSP00000507535.1:n.*949+403_*949+404del | |
| ENST00000682843.1:c.*971+765_*971+766del | ENSP00000508173.1:n.*971+765_*971+766del | |
| ENST00000683003.1:c.*483+765_*483+766del | ENSP00000507576.1:n.*483+765_*483+766del | |
| ENST00000683133.1:c.1330+403_1330+404del | ENSP00000508108.1:n.1330+403_1330+404del | |
| ENST00000683228.1:n.1580_1581del | ||
| ENST00000683243.1:c.*483+765_*483+766del | ENSP00000507042.1:n.*483+765_*483+766del | |
| ENST00000683463.1:c.1074-573_1074-572del | ENSP00000507986.1:n.1074-573_1074-572del | |
| ENST00000683548.1:n.1104+765_1104+766del | ||
| ENST00000683579.1:c.*1044+403_*1044+404del | ENSP00000506867.1:n.*1044+403_*1044+404del | |
| ENST00000683587.1:n.1177+403_1177+404del | ||
| ENST00000683681.1:c.1146+403_1146+404del | ENSP00000508110.1:n.1146+403_1146+404del | |
| ENST00000683735.1:c.*1044+403_*1044+404del | ENSP00000508336.1:n.*1044+403_*1044+404del | |
| ENST00000683742.1:n.1380_1381del | ||
| ENST00000683853.1:c.1074-573_1074-572del | ENSP00000506834.1:n.1074-573_1074-572del | |
| ENST00000683860.1:c.1146+403_1146+404del | ENSP00000507179.1:n.1146+403_1146+404del | |
| ENST00000683884.1:c.1146+403_1146+404del | ENSP00000507004.1:n.1146+403_1146+404del | |
| ENST00000684041.1:c.1146+403_1146+404del | ENSP00000508382.1:n.1146+403_1146+404del | |
| ENST00000684125.1:c.1073+765_1073+766del | ENSP00000507320.1:n.1073+765_1073+766del | |
| ENST00000684203.1:n.2912-573_2912-572del | ||
| ENST00000684231.1:c.*556+403_*556+404del | ENSP00000507748.1:n.*556+403_*556+404del | |
| ENST00000684263.1:c.*86+403_*86+404del | ENSP00000508369.1:n.*86+403_*86+404del | |
| ENST00000684305.1:c.1594+403_1594+404del | ENSP00000506819.1:n.1594+403_1594+404del | |
| ENST00000684415.1:c.*14-573_*14-572del | ENSP00000507227.1:n.*14-573_*14-572del | |
| ENST00000684520.1:c.1146+403_1146+404del | ENSP00000506826.1:n.1146+403_1146+404del | |
| ENST00000684602.1:c.*812+403_*812+404del | ENSP00000507996.1:n.*812+403_*812+404del | |
| ENST00000684667.1:c.1477+403_1477+404del | ENSP00000507003.1:n.1477+403_1477+404del | |
| ENST00000268097.10:c.1146+403_1146+404del MANE Select | ENSP00000268097.6:n.1146+403_1146+404del | |
| ENST00000268097.9:c.1146+403_1146+404del | ENSP00000268097.5:n.1146+403_1146+404del | |
| ENST00000379915.4:c.413-958_413-957del | ENSP00000478716.1:n.413-958_413-957del | |
| ENST00000563762.5:c.825+765_825+766del | ENSP00000456346.1:n.825+765_825+766del | |
| ENST00000566304.5:c.1179+403_1179+404del | ENSP00000455114.1:n.1179+403_1179+404del | |
| ENST00000566672.5:c.*556+403_*556+404del | ENSP00000457037.1:n.*556+403_*556+404del | |
| ENST00000567027.5:c.945+765_945+766del | ||
| ENST00000567159.5:c.1146+403_1146+404del | ENSP00000456489.1:n.1146+403_1146+404del | |
| ENST00000567411.5:c.*667+403_*667+404del | ENSP00000455545.1:n.*667+403_*667+404del | |
| ENST00000568777.5:n.6550+403_6550+404del | ||
| ENST00000569410.5:c.1074-573_1074-572del | ENSP00000457125.1:n.1074-573_1074-572del | |
| NM_000520.4:c.1146+403_1146+404del | NP_000511.2:n.1146+403_1146+404del | |
| NM_000520.5:c.1146+403_1146+404del | NP_000511.2:n.1146+403_1146+404del | |
| NM_001318825.1:c.1179+403_1179+404del | NP_001305754.1:n.1179+403_1179+404del | |
| NR_134869.1:n.1574+765_1574+766del | ||
| NM_000520.6:c.1146+403_1146+404del MANE Select | NP_000511.2:n.1146+403_1146+404del | |
| NM_001318825.2:c.1179+403_1179+404del | NP_001305754.1:n.1179+403_1179+404del | |
| NR_134869.2:n.1115+765_1115+766del | ||
| NR_134869.3:n.1115+765_1115+766del |