Linked Data
dbSNP Id:
rs371817940
gnomAD v2:
16-28493307-CAA-C
gnomAD v3:
16-28481986-CAA-C
gnomAD v4:
16-28481986-CAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28482002_28482003del , CM000678.2:g.28482002_28482003del | GRCh38 |
| NC_000016.9:g.28493323_28493324del , CM000678.1:g.28493323_28493324del | GRCh37 |
| NC_000016.8:g.28400824_28400825del | NCBI36 |
| NG_008654.2:g.15315_15316del , LRG_689:g.15315_15316del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333496.14:c.984+117_984+118del | ENSP00000329171.9:n.984+117_984+118del | |
| ENST00000355477.10:c.912+117_912+118del | ENSP00000347660.7:n.912+117_912+118del | |
| ENST00000357857.14:c.894+117_894+118del | ENSP00000350523.9:n.894+117_894+118del | |
| ENST00000359984.12:c.1056+117_1056+118del | ENSP00000353073.9:n.1056+117_1056+118del | |
| ENST00000360019.8:c.984+117_984+118del | ENSP00000353116.3:n.984+117_984+118del | |
| ENST00000395653.9:c.597+117_597+118del | ENSP00000379014.5:n.597+117_597+118del | |
| ENST00000561689.6:n.1469+117_1469+118del | ||
| ENST00000564091.6:c.396+117_396+118del | ENSP00000454466.2:n.396+117_396+118del | |
| ENST00000565316.6:c.1005+117_1005+118del | ENSP00000456117.1:n.1005+117_1005+118del | |
| ENST00000566824.6:n.1116+117_1116+118del | ||
| ENST00000567963.6:c.894+117_894+118del | ENSP00000455387.2:n.894+117_894+118del | |
| ENST00000568076.6:n.1485+117_1485+118del | ||
| ENST00000568422.6:c.*293+117_*293+118del | ENSP00000455549.2:n.*293+117_*293+118del | |
| ENST00000568452.6:n.1287+117_1287+118del | ||
| ENST00000569430.7:c.1056+117_1056+118del | ENSP00000454229.1:n.1056+117_1056+118del | |
| ENST00000628023.3:c.*352+117_*352+118del | ENSP00000486178.1:n.*352+117_*352+118del | |
| ENST00000635861.1:c.*708+117_*708+118del | ENSP00000490034.1:n.*708+117_*708+118del | |
| ENST00000635887.1:c.1056+117_1056+118del | ENSP00000490709.1:n.1056+117_1056+118del | |
| ENST00000635958.1:n.1341+117_1341+118del | ||
| ENST00000636017.1:c.*580+117_*580+118del | ENSP00000490538.1:n.*580+117_*580+118del | |
| ENST00000636078.1:n.1178+117_1178+118del | ||
| ENST00000636147.2:c.1056+117_1056+118del MANE Select | ENSP00000490105.1:n.1056+117_1056+118del | |
| ENST00000636172.1:c.*580+117_*580+118del | ENSP00000490505.1:n.*580+117_*580+118del | |
| ENST00000636228.1:c.750+117_750+118del | ENSP00000489627.1:n.750+117_750+118del | |
| ENST00000636351.1:n.950+117_950+118del | ||
| ENST00000636503.1:c.1056+117_1056+118del | ENSP00000489824.1:n.1056+117_1056+118del | |
| ENST00000636685.1:n.737+117_737+118del | ||
| ENST00000636766.1:c.1056+117_1056+118del | ENSP00000489841.1:n.1056+117_1056+118del | |
| ENST00000636839.1:n.1430+117_1430+118del | ||
| ENST00000636853.1:n.1971+117_1971+118del | ||
| ENST00000636866.1:c.1056+117_1056+118del | ENSP00000490880.1:n.1056+117_1056+118del | |
| ENST00000636907.1:n.1207+117_1207+118del | ||
| ENST00000636977.1:n.2426+117_2426+118del | ||
| ENST00000637050.1:n.1445+117_1445+118del | ||
| ENST00000637100.1:c.1005+117_1005+118del | ENSP00000490394.1:n.1005+117_1005+118del | |
| ENST00000637107.1:c.*580+117_*580+118del | ENSP00000490248.1:n.*580+117_*580+118del | |
| ENST00000637184.1:c.1056+117_1056+118del | ENSP00000489952.1:n.1056+117_1056+118del | |
| ENST00000637299.1:c.*865+117_*865+118del | ENSP00000489823.1:n.*865+117_*865+118del | |
| ENST00000637376.1:c.1056+117_1056+118del | ENSP00000490758.1:n.1056+117_1056+118del | |
| ENST00000637378.1:c.228+117_228+118del | ENSP00000490831.1:n.228+117_228+118del | |
| ENST00000637578.1:c.*580+117_*580+118del | ENSP00000490206.1:n.*580+117_*580+118del | |
| ENST00000637699.1:c.967+117_967+118del | ENSP00000490049.1:n.967+117_967+118del | |
| ENST00000637745.1:c.395+117_395+118del | ||
| ENST00000637871.1:c.*754+117_*754+118del | ENSP00000490670.1:n.*754+117_*754+118del | |
| ENST00000638036.1:c.218+117_218+118del | ||
| ENST00000333496.13:c.984+117_984+118del | ENSP00000329171.9:n.984+117_984+118del | |
| ENST00000355477.9:c.*293+117_*293+118del | ENSP00000347660.6:n.*293+117_*293+118del | |
| ENST00000357806.11:c.759+117_759+118del | ENSP00000350457.7:n.759+117_759+118del | |
| ENST00000357857.13:c.894+117_894+118del | ENSP00000350523.9:n.894+117_894+118del | |
| ENST00000359984.11:c.750+117_750+118del | ENSP00000353073.8:n.750+117_750+118del | |
| ENST00000360019.6:c.1056+117_1056+118del | ENSP00000353116.2:n.1056+117_1056+118del | |
| ENST00000395653.8:c.756+117_756+118del | ENSP00000379014.4:n.756+117_756+118del | |
| ENST00000561689.5:n.1025+117_1025+118del | ||
| ENST00000563874.5:n.2584+117_2584+118del | ||
| ENST00000564091.5:c.145+117_145+118del | ||
| ENST00000565140.5:c.839+117_839+118del | ENSP00000455342.1:n.839+117_839+118del | |
| ENST00000565316.5:c.1005+117_1005+118del | ENSP00000456117.1:n.1005+117_1005+118del | |
| ENST00000565354.5:n.369+117_369+118del | ||
| ENST00000566057.5:c.670+117_670+118del | ENSP00000456693.1:n.670+117_670+118del | |
| ENST00000567963.5:c.906+489_906+490del | ENSP00000455387.1:n.906+489_906+490del | |
| ENST00000568076.5:n.967+117_967+118del | ||
| ENST00000568224.4:c.822+117_822+118del | ENSP00000454253.1:n.822+117_822+118del | |
| ENST00000568422.5:c.*293+117_*293+118del | ENSP00000455549.1:n.*293+117_*293+118del | |
| ENST00000568452.5:n.1184+117_1184+118del | ||
| ENST00000569030.5:c.726+117_726+118del | ENSP00000454680.1:n.726+117_726+118del | |
| ENST00000569430.5:c.1056+117_1056+118del | ENSP00000454229.1:n.1056+117_1056+118del | |
| ENST00000628023.2:c.*352+117_*352+118del | ENSP00000486178.1:n.*352+117_*352+118del | |
| ENST00000631023.2:c.906+489_906+490del | ENSP00000486616.1:n.906+489_906+490del | |
| NM_000086.2:c.1056+117_1056+118del , LRG_689t1:c.1056+117_1056+118del | NP_000077.1:n.1056+117_1056+118del | |
| NM_001042432.1:c.1056+117_1056+118del , LRG_689t2:c.1056+117_1056+118del | NP_001035897.1:n.1056+117_1056+118del | |
| NM_001286104.1:c.984+117_984+118del | NP_001273033.1:n.984+117_984+118del | |
| NM_001286105.1:c.756+117_756+118del | NP_001273034.1:n.756+117_756+118del | |
| NM_001286109.1:c.822+117_822+118del | NP_001273038.1:n.822+117_822+118del | |
| NM_001286110.1:c.894+117_894+118del | NP_001273039.1:n.894+117_894+118del | |
| NM_001042432.2:c.1056+117_1056+118del MANE Select | NP_001035897.1:n.1056+117_1056+118del | |
| NM_001286104.2:c.984+117_984+118del | NP_001273033.1:n.984+117_984+118del | |
| NM_001286105.2:c.756+117_756+118del | NP_001273034.1:n.756+117_756+118del | |
| NM_001286109.2:c.822+117_822+118del | NP_001273038.1:n.822+117_822+118del | |
| NM_001286110.2:c.894+117_894+118del | NP_001273039.1:n.894+117_894+118del |