Linked Data
ClinVar Variation Id:
65322
ClinVar RCV Id:
RCV000055546
dbSNP Id:
rs397515235
ExAC:
16:2134198 CAG / C
gnomAD v2:
16-2134198-CAG-C
gnomAD v3:
16-2084197-CAG-C
gnomAD v4:
16-2084197-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2084198_2084199del , CM000678.2:g.2084198_2084199del | GRCh38 |
| NC_000016.9:g.2134199_2134200del , CM000678.1:g.2134199_2134200del | GRCh37 |
| NC_000016.8:g.2074200_2074201del | NCBI36 |
| NG_005895.1:g.39893_39894del , LRG_487:g.39893_39894del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*2355-30_*2355-29del | ENSP00000455997.2:n.*2355-30_*2355-29del | |
| ENST00000642206.2:c.3853-30_3853-29del | ENSP00000495146.2:n.3853-30_3853-29del | |
| ENST00000642365.2:c.4003-30_4003-29del | ENSP00000495459.2:n.4003-30_4003-29del | |
| ENST00000644417.2:c.*4386-30_*4386-29del | ENSP00000493912.2:n.*4386-30_*4386-29del | |
| ENST00000646464.2:c.*6755-30_*6755-29del | ENSP00000496610.2:n.*6755-30_*6755-29del | |
| ENST00000219476.9:c.4006-30_4006-29del MANE Select | ENSP00000219476.3:n.4006-30_4006-29del | |
| ENST00000350773.9:c.3937-30_3937-29del | ENSP00000344383.4:n.3937-30_3937-29del | |
| ENST00000401874.7:c.3805-30_3805-29del | ENSP00000384468.2:n.3805-30_3805-29del | |
| ENST00000568454.6:c.3838-30_3838-29del | ENSP00000454487.1:n.3838-30_3838-29del | |
| ENST00000569110.2:c.242-30_242-29del | ||
| ENST00000569930.2:n.1888-30_1888-29del | ||
| ENST00000642365.1:c.2660-30_2660-29del | ||
| ENST00000642561.1:c.3877-30_3877-29del | ENSP00000495099.1:n.3877-30_3877-29del | |
| ENST00000642728.1:n.188-30_188-29del | ||
| ENST00000642797.1:c.3808-30_3808-29del | ENSP00000493846.1:n.3808-30_3808-29del | |
| ENST00000642936.1:c.3874-30_3874-29del | ENSP00000494514.1:n.3874-30_3874-29del | |
| ENST00000643088.1:c.3805-30_3805-29del | ENSP00000494747.1:n.3805-30_3805-29del | |
| ENST00000643177.1:n.20-30_20-29del | ||
| ENST00000643426.1:n.1654-30_1654-29del | ||
| ENST00000643533.1:n.447-30_447-29del | ||
| ENST00000643946.1:c.3937-30_3937-29del | ENSP00000495927.1:n.3937-30_3937-29del | |
| ENST00000644043.1:c.3877-30_3877-29del | ENSP00000496262.1:n.3877-30_3877-29del | |
| ENST00000644329.1:c.3805-30_3805-29del | ENSP00000496611.1:n.3805-30_3805-29del | |
| ENST00000644335.1:c.3808-30_3808-29del | ENSP00000496317.1:n.3808-30_3808-29del | |
| ENST00000644399.1:c.3927-30_3927-29del | ||
| ENST00000645024.1:n.2090-30_2090-29del | ||
| ENST00000645186.1:c.249-30_249-29del | ||
| ENST00000646388.1:c.4006-30_4006-29del | ENSP00000495921.1:n.4006-30_4006-29del | |
| ENST00000646634.1:n.2821-30_2821-29del | ||
| ENST00000646674.1:n.1258-30_1258-29del | ||
| ENST00000647042.1:n.1229-30_1229-29del | ||
| ENST00000647180.1:n.1119-30_1119-29del | ||
| ENST00000219476.7:c.4006-30_4006-29del | ENSP00000219476.3:n.4006-30_4006-29del | |
| ENST00000350773.8:c.3937-30_3937-29del | ENSP00000344383.4:n.3937-30_3937-29del | |
| ENST00000382538.10:c.3661-30_3661-29del | ENSP00000371978.6:n.3661-30_3661-29del | |
| ENST00000401874.6:c.3805-30_3805-29del | ENSP00000384468.2:n.3805-30_3805-29del | |
| ENST00000439117.6:c.*3173-30_*3173-29del | ENSP00000406980.2:n.*3173-30_*3173-29del | |
| ENST00000439673.6:c.3697-30_3697-29del | ENSP00000399232.2:n.3697-30_3697-29del | |
| ENST00000497886.5:n.1764-30_1764-29del | ||
| ENST00000568454.5:c.3838-30_3838-29del | ENSP00000454487.1:n.3838-30_3838-29del | |
| ENST00000569110.1:c.188-30_188-29del | ||
| ENST00000569930.1:n.1121-30_1121-29del | ||
| NM_000548.3:c.4006-30_4006-29del , LRG_487t1:c.4006-30_4006-29del | NP_000539.2:n.4006-30_4006-29del | |
| NM_001077183.1:c.3805-30_3805-29del | NP_001070651.1:n.3805-30_3805-29del | |
| NM_001114382.1:c.3937-30_3937-29del | NP_001107854.1:n.3937-30_3937-29del | |
| XM_005255529.3:c.3877-30_3877-29del | XP_005255586.2:n.3877-30_3877-29del | |
| XM_005255531.3:c.3808-30_3808-29del | XP_005255588.2:n.3808-30_3808-29del | |
| XM_011522636.1:c.4060-30_4060-29del | XP_011520938.1:n.4060-30_4060-29del | |
| XM_011522637.1:c.4057-30_4057-29del | XP_011520939.1:n.4057-30_4057-29del | |
| XM_011522638.1:c.3949-30_3949-29del | XP_011520940.1:n.3949-30_3949-29del | |
| XM_011522639.1:c.3931-30_3931-29del | XP_011520941.1:n.3931-30_3931-29del | |
| XM_011522640.1:c.3928-30_3928-29del | XP_011520942.1:n.3928-30_3928-29del | |
| XM_011522641.1:c.3697-30_3697-29del | XP_011520943.1:n.3697-30_3697-29del | |
| NM_000548.4:c.4006-30_4006-29del | NP_000539.2:n.4006-30_4006-29del | |
| NM_001077183.2:c.3805-30_3805-29del | NP_001070651.1:n.3805-30_3805-29del | |
| NM_001114382.2:c.3937-30_3937-29del | NP_001107854.1:n.3937-30_3937-29del | |
| NM_001318827.1:c.3697-30_3697-29del | NP_001305756.1:n.3697-30_3697-29del | |
| NM_001318829.1:c.3661-30_3661-29del | NP_001305758.1:n.3661-30_3661-29del | |
| NM_001318831.1:c.3274-30_3274-29del | NP_001305760.1:n.3274-30_3274-29del | |
| NM_001318832.1:c.3838-30_3838-29del | NP_001305761.1:n.3838-30_3838-29del | |
| NM_001363528.1:c.3808-30_3808-29del | NP_001350457.1:n.3808-30_3808-29del | |
| NM_021055.2:c.3877-30_3877-29del | NP_066399.2:n.3877-30_3877-29del | |
| XM_005255531.4:c.3808-30_3808-29del | XP_005255588.2:n.3808-30_3808-29del | |
| XM_011522636.2:c.4060-30_4060-29del | XP_011520938.1:n.4060-30_4060-29del | |
| XM_011522637.2:c.4057-30_4057-29del | XP_011520939.1:n.4057-30_4057-29del | |
| XM_011522638.2:c.4222-30_4222-29del | XP_011520940.2:n.4222-30_4222-29del | |
| XM_011522639.2:c.3931-30_3931-29del | XP_011520941.1:n.3931-30_3931-29del | |
| XM_011522640.2:c.3928-30_3928-29del | XP_011520942.1:n.3928-30_3928-29del | |
| XM_017023615.1:c.4003-30_4003-29del | XP_016879104.1:n.4003-30_4003-29del | |
| XM_017023616.1:c.3874-30_3874-29del | XP_016879105.1:n.3874-30_3874-29del | |
| XM_017023617.1:c.3970-30_3970-29del | XP_016879106.1:n.3970-30_3970-29del | |
| XM_017023618.1:c.2716-30_2716-29del | XP_016879107.1:n.2716-30_2716-29del | |
| XM_024450413.1:c.3805-30_3805-29del | XP_024306181.1:n.3805-30_3805-29del | |
| NM_000548.5:c.4006-30_4006-29del MANE Select | NP_000539.2:n.4006-30_4006-29del | |
| NM_001370404.1:c.3874-30_3874-29del | NP_001357333.1:n.3874-30_3874-29del | |
| NM_001370405.1:c.3877-30_3877-29del | NP_001357334.1:n.3877-30_3877-29del | |
| NM_001077183.3:c.3805-30_3805-29del | NP_001070651.1:n.3805-30_3805-29del | |
| NM_001114382.3:c.3937-30_3937-29del | NP_001107854.1:n.3937-30_3937-29del | |
| NM_001318827.2:c.3697-30_3697-29del | NP_001305756.1:n.3697-30_3697-29del | |
| NM_001318829.2:c.3661-30_3661-29del | NP_001305758.1:n.3661-30_3661-29del | |
| NM_001318831.2:c.3274-30_3274-29del | NP_001305760.1:n.3274-30_3274-29del | |
| NM_001318832.2:c.3838-30_3838-29del | NP_001305761.1:n.3838-30_3838-29del | |
| NM_001363528.2:c.3808-30_3808-29del | NP_001350457.1:n.3808-30_3808-29del | |
| NM_021055.3:c.3877-30_3877-29del | NP_066399.2:n.3877-30_3877-29del |