Linked Data
dbSNP Id:
rs1383273054
gnomAD v2:
10-61839766-TGA-T
gnomAD v3:
10-60080008-TGA-T
gnomAD v4:
10-60080008-TGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.60080012_60080013del , CM000672.2:g.60080012_60080013del | GRCh38 |
| NC_000010.10:g.61839770_61839771del , CM000672.1:g.61839770_61839771del | GRCh37 |
| NC_000010.9:g.61509776_61509777del | NCBI36 |
| NG_029917.1:g.658517_658518del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000467420.7:c.4489+527_4489+528del | ENSP00000423968.2:n.4489+527_4489+528del | |
| ENST00000503366.6:c.4408+527_4408+528del | ENSP00000425236.1:n.4408+527_4408+528del | |
| ENST00000280772.7:c.4432+527_4432+528del MANE Select | ENSP00000280772.1:n.4432+527_4432+528del | |
| ENST00000280772.6:c.4432+527_4432+528del | ENSP00000280772.1:n.4432+527_4432+528del | |
| ENST00000355288.6:c.1807+527_1807+528del | ENSP00000347436.2:n.1807+527_1807+528del | |
| ENST00000373820.5:c.181+527_181+528del | ENSP00000362926.1:n.181+527_181+528del | |
| ENST00000373827.6:c.4387+527_4387+528del | ENSP00000362933.2:n.4387+527_4387+528del | |
| ENST00000503366.5:c.4408+527_4408+528del | ENSP00000425236.1:n.4408+527_4408+528del | |
| ENST00000511043.5:c.84+527_84+528del | ||
| ENST00000610321.4:c.1457+527_1457+528del | ||
| ENST00000616444.4:c.1223+563_1223+564del | ||
| ENST00000618374.4:c.1807+527_1807+528del | ENSP00000479018.1:n.1807+527_1807+528del | |
| NM_001149.3:c.1807+527_1807+528del | NP_001140.2:n.1807+527_1807+528del | |
| NM_001204403.1:c.4387+527_4387+528del | NP_001191332.1:n.4387+527_4387+528del | |
| NM_001204404.1:c.4408+527_4408+528del | NP_001191333.1:n.4408+527_4408+528del | |
| NM_020987.3:c.4432+527_4432+528del | NP_066267.2:n.4432+527_4432+528del | |
| XM_005269715.2:c.4459+527_4459+528del | XP_005269772.1:n.4459+527_4459+528del | |
| XM_005269716.2:c.4405+527_4405+528del | XP_005269773.1:n.4405+527_4405+528del | |
| XM_006717791.2:c.4498+527_4498+528del | XP_006717854.1:n.4498+527_4498+528del | |
| XM_006717793.2:c.4498+527_4498+528del | XP_006717856.1:n.4498+527_4498+528del | |
| XM_006717795.2:c.4498+527_4498+528del | XP_006717858.1:n.4498+527_4498+528del | |
| XM_006717796.2:c.4498+527_4498+528del | XP_006717859.1:n.4498+527_4498+528del | |
| XM_006717802.2:c.4498+527_4498+528del | XP_006717865.1:n.4498+527_4498+528del | |
| XM_011539700.1:c.4486+527_4486+528del | XP_011538002.1:n.4486+527_4486+528del | |
| XM_011539701.1:c.4480+527_4480+528del | XP_011538003.1:n.4480+527_4480+528del | |
| XM_011539702.1:c.4441+527_4441+528del | XP_011538004.1:n.4441+527_4441+528del | |
| XM_011539703.1:c.4420+527_4420+528del | XP_011538005.1:n.4420+527_4420+528del | |
| XM_011539704.1:c.4399+527_4399+528del | XP_011538006.1:n.4399+527_4399+528del | |
| XM_011539705.1:c.4399+527_4399+528del | XP_011538007.1:n.4399+527_4399+528del | |
| XM_011539706.1:c.4387+527_4387+528del | XP_011538008.1:n.4387+527_4387+528del | |
| XM_011539707.1:c.4498+527_4498+528del | XP_011538009.1:n.4498+527_4498+528del | |
| XM_011539708.1:c.4498+527_4498+528del | XP_011538010.1:n.4498+527_4498+528del | |
| XM_011539709.1:c.4498+527_4498+528del | XP_011538011.1:n.4498+527_4498+528del | |
| XM_011539710.1:c.4498+527_4498+528del | XP_011538012.1:n.4498+527_4498+528del | |
| XM_011539711.1:c.4471+527_4471+528del | XP_011538013.1:n.4471+527_4471+528del | |
| XM_011539712.1:c.4462+563_4462+564del | XP_011538014.1:n.4462+563_4462+564del | |
| XM_011539713.1:c.4435+563_4435+564del | XP_011538015.1:n.4435+563_4435+564del | |
| XM_011539714.1:c.1846+527_1846+528del | XP_011538016.1:n.1846+527_1846+528del | |
| XM_011539715.1:c.1834+527_1834+528del | XP_011538017.1:n.1834+527_1834+528del | |
| XM_011539716.1:c.4471+527_4471+528del | XP_011538018.1:n.4471+527_4471+528del | |
| XM_011539717.1:c.4459+527_4459+528del | XP_011538019.1:n.4459+527_4459+528del | |
| XM_011539718.1:c.4342+527_4342+528del | XP_011538020.1:n.4342+527_4342+528del | |
| NM_001320874.1:c.4405+527_4405+528del | NP_001307803.1:n.4405+527_4405+528del | |
| NM_020987.4:c.4432+527_4432+528del | NP_066267.2:n.4432+527_4432+528del | |
| XM_005269715.3:c.4459+527_4459+528del | XP_005269772.1:n.4459+527_4459+528del | |
| XM_006717796.3:c.4498+527_4498+528del | XP_006717859.1:n.4498+527_4498+528del | |
| XM_006717802.3:c.4498+527_4498+528del | XP_006717865.1:n.4498+527_4498+528del | |
| XM_011539708.2:c.4498+527_4498+528del | XP_011538010.1:n.4498+527_4498+528del | |
| XM_011539709.2:c.4498+527_4498+528del | XP_011538011.1:n.4498+527_4498+528del | |
| XM_017016110.1:c.4498+527_4498+528del | XP_016871599.1:n.4498+527_4498+528del | |
| XM_017016111.1:c.4486+527_4486+528del | XP_016871600.1:n.4486+527_4486+528del | |
| XM_017016112.1:c.4483+527_4483+528del | XP_016871601.1:n.4483+527_4483+528del | |
| XM_017016113.1:c.4471+527_4471+528del | XP_016871602.1:n.4471+527_4471+528del | |
| XM_017016114.1:c.4447+527_4447+528del | XP_016871603.1:n.4447+527_4447+528del | |
| XM_017016115.1:c.4420+527_4420+528del | XP_016871604.1:n.4420+527_4420+528del | |
| XM_017016116.1:c.4498+527_4498+528del | XP_016871605.1:n.4498+527_4498+528del | |
| XM_017016117.1:c.4498+527_4498+528del | XP_016871606.1:n.4498+527_4498+528del | |
| XM_017016118.1:c.4498+527_4498+528del | XP_016871607.1:n.4498+527_4498+528del | |
| XM_017016119.1:c.4498+527_4498+528del | XP_016871608.1:n.4498+527_4498+528del | |
| XM_017016120.1:c.4498+527_4498+528del | XP_016871609.1:n.4498+527_4498+528del | |
| XM_017016121.1:c.4471+527_4471+528del | XP_016871610.1:n.4471+527_4471+528del | |
| XM_017016122.1:c.4405+527_4405+528del | XP_016871611.1:n.4405+527_4405+528del | |
| XM_017016123.1:c.4498+527_4498+528del | XP_016871612.1:n.4498+527_4498+528del | |
| XM_017016124.1:c.4471+527_4471+528del | XP_016871613.1:n.4471+527_4471+528del | |
| XM_017016125.1:c.4471+527_4471+528del | XP_016871614.1:n.4471+527_4471+528del | |
| XM_017016126.1:c.4366+527_4366+528del | XP_016871615.1:n.4366+527_4366+528del | |
| XM_017016127.1:c.4339+527_4339+528del | XP_016871616.1:n.4339+527_4339+528del | |
| XM_017016128.1:c.4471+527_4471+528del | XP_016871617.1:n.4471+527_4471+528del | |
| XM_017016129.1:c.4471+527_4471+528del | XP_016871618.1:n.4471+527_4471+528del | |
| XM_017016130.1:c.4405+527_4405+528del | XP_016871619.1:n.4405+527_4405+528del | |
| XM_017016131.1:c.4390+527_4390+528del | XP_016871620.1:n.4390+527_4390+528del | |
| XM_017016132.1:c.4369+563_4369+564del | XP_016871621.1:n.4369+563_4369+564del | |
| XM_017016134.1:c.4339+527_4339+528del | XP_016871623.1:n.4339+527_4339+528del | |
| XM_017016136.1:c.4498+527_4498+528del | XP_016871625.1:n.4498+527_4498+528del | |
| XM_017016137.1:c.4471+527_4471+528del | XP_016871626.1:n.4471+527_4471+528del | |
| XM_017016138.1:c.4471+527_4471+528del | XP_016871627.1:n.4471+527_4471+528del | |
| XM_017016141.1:c.4366+527_4366+528del | XP_016871630.1:n.4366+527_4366+528del | |
| XM_024447953.1:c.4471+527_4471+528del | XP_024303721.1:n.4471+527_4471+528del | |
| XM_024447954.1:c.4444+527_4444+528del | XP_024303722.1:n.4444+527_4444+528del | |
| XM_024447955.1:c.4435+527_4435+528del | XP_024303723.1:n.4435+527_4435+528del | |
| XM_024447956.1:c.4432+527_4432+528del | XP_024303724.1:n.4432+527_4432+528del | |
| XM_024447957.1:c.4399+527_4399+528del | XP_024303725.1:n.4399+527_4399+528del | |
| XM_024447958.1:c.4381+527_4381+528del | XP_024303726.1:n.4381+527_4381+528del | |
| XM_024447959.1:c.4381+527_4381+528del | XP_024303727.1:n.4381+527_4381+528del | |
| XM_024447960.1:c.4369+527_4369+528del | XP_024303728.1:n.4369+527_4369+528del | |
| XM_024447961.1:c.4366+527_4366+528del | XP_024303729.1:n.4366+527_4366+528del | |
| XM_024447962.1:c.4471+527_4471+528del | XP_024303730.1:n.4471+527_4471+528del | |
| XM_024447963.1:c.4498+527_4498+528del | XP_024303731.1:n.4498+527_4498+528del | |
| XM_024447964.1:c.4435+563_4435+564del | XP_024303732.1:n.4435+563_4435+564del | |
| XM_024447965.1:c.4462+563_4462+564del | XP_024303733.1:n.4462+563_4462+564del | |
| NM_020987.5:c.4432+527_4432+528del MANE Select | NP_066267.2:n.4432+527_4432+528del | |
| NM_001204403.2:c.4387+527_4387+528del | NP_001191332.1:n.4387+527_4387+528del | |
| NM_001204404.2:c.4408+527_4408+528del | NP_001191333.1:n.4408+527_4408+528del | |
| NM_001320874.2:c.4405+527_4405+528del | NP_001307803.1:n.4405+527_4405+528del | |
| NM_001149.4:c.1807+527_1807+528del | NP_001140.2:n.1807+527_1807+528del |