Linked Data
dbSNP Id:
rs768422260
ExAC:
15:68500617 AAGG / A
gnomAD v2:
15-68500617-AAGG-A
gnomAD v3:
15-68208279-AAGG-A
gnomAD v4:
15-68208279-AAGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68208285_68208287del , CM000677.2:g.68208285_68208287del | GRCh38 |
| NC_000015.9:g.68500623_68500625del , CM000677.1:g.68500623_68500625del | GRCh37 |
| NC_000015.8:g.66287677_66287679del | NCBI36 |
| NG_008764.2:g.53930_53932del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000249806.11:c.794_796del MANE Select | ENSP00000249806.5:p.Ser265del | |
| ENST00000562767.2:c.84-10654_84-10652del | ENSP00000456336.1:n.84-10654_84-10652del | |
| ENST00000565471.6:c.335_337del | ENSP00000457384.1:p.Ser112del | |
| ENST00000635747.1:c.*697_*699del | ENSP00000490627.1:n.*697_*699del | |
| ENST00000636212.1:c.*464_*466del | ENSP00000489851.1:n.*464_*466del | |
| ENST00000636674.1:n.1896_1898del | ||
| ENST00000636964.1:n.2322_2324del | ||
| ENST00000637054.1:c.198+10254_198+10256del | ENSP00000490807.1:n.198+10254_198+10256de... | |
| ENST00000637329.1:c.763_765del | ||
| ENST00000637450.1:c.*448_*450del | ENSP00000490204.1:n.*448_*450del | |
| ENST00000637494.1:c.506_508del | ENSP00000490057.1:p.Ser169del | |
| ENST00000637667.1:c.695_697del | ENSP00000489843.1:p.Ser232del | |
| ENST00000637823.1:c.619_621del | ||
| ENST00000637888.1:c.198+10254_198+10256del | ENSP00000490546.1:n.198+10254_198+10256de... | |
| ENST00000638076.1:c.*397_*399del | ENSP00000490373.1:n.*397_*399del | |
| ENST00000638144.1:n.437_439del | ||
| ENST00000646164.1:c.39-8601_39-8599del | ||
| ENST00000249806.9:c.794_796del | ENSP00000249806.5:p.Ser265del | |
| ENST00000538696.5:c.890_892del | ENSP00000445770.1:p.Ser297del | |
| ENST00000562767.1:c.84-10654_84-10652del | ENSP00000456336.1:n.84-10654_84-10652del | |
| ENST00000565471.5:c.335_337del | ENSP00000457384.1:p.Ser112del | |
| ENST00000566347.5:c.605_607del | ENSP00000457783.1:p.Ser202del | |
| ENST00000567060.5:c.*192_*194del | ENSP00000454818.1:n.*192_*194del | |
| NM_017882.2:c.794_796del | NP_060352.1:p.Ser265del | |
| NM_017882.3:c.794_796del MANE Select | NP_060352.1:p.Ser265del |