Canonical Allele Identifier: CA916081771
Community Standard Title: NM_000548.5(TSC2):c.2247_2248delinsAT (p.Leu750Phe)
Gene: TSC2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2072875_2072876delinsAT , CM000678.2:g.2072875_2072876delinsAT GRCh38
NC_000016.9:g.2122876_2122877delinsAT , CM000678.1:g.2122876_2122877delinsAT GRCh37
NC_000016.8:g.2062877_2062878delinsAT NCBI36
NG_005895.1:g.28570_28571delinsAT , LRG_487:g.28570_28571delinsAT

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.2247_2248delinsAT MANE Select NP_000539.2:p.Leu750Phe
ENST00000219476.9:c.2247_2248delinsAT MANE Select ENSP00000219476.3:p.Leu750Phe
NM_000548.3:c.2247_2248delinsAT , LRG_487t1:c.2247_2248delinsAT NP_000539.2:p.Leu750Phe
NM_000548.4:c.2247_2248delinsAT NP_000539.2:p.Leu750Phe
NM_001077183.1:c.2247_2248delinsAT NP_001070651.1:p.Leu750Phe
NM_001077183.2:c.2247_2248delinsAT NP_001070651.1:p.Leu750Phe
NM_001077183.3:c.2247_2248delinsAT NP_001070651.1:p.Leu750Phe
NM_001114382.1:c.2247_2248delinsAT NP_001107854.1:p.Leu750Phe
NM_001114382.2:c.2247_2248delinsAT NP_001107854.1:p.Leu750Phe
NM_001114382.3:c.2247_2248delinsAT NP_001107854.1:p.Leu750Phe
NM_001318827.1:c.2136_2137delinsAT NP_001305756.1:p.Leu713Phe
NM_001318827.2:c.2136_2137delinsAT NP_001305756.1:p.Leu713Phe
NM_001318829.1:c.2100_2101delinsAT NP_001305758.1:p.Leu701Phe
NM_001318829.2:c.2100_2101delinsAT NP_001305758.1:p.Leu701Phe
NM_001318831.1:c.1647_1648delinsAT NP_001305760.1:p.Leu550Phe
NM_001318831.2:c.1647_1648delinsAT NP_001305760.1:p.Leu550Phe
NM_001318832.1:c.2280_2281delinsAT NP_001305761.1:p.Leu761Phe
NM_001318832.2:c.2280_2281delinsAT NP_001305761.1:p.Leu761Phe
NM_001363528.1:c.2247_2248delinsAT NP_001350457.1:p.Leu750Phe
NM_001363528.2:c.2247_2248delinsAT NP_001350457.1:p.Leu750Phe
NM_001370404.1:c.2247_2248delinsAT NP_001357333.1:p.Leu750Phe
NM_001370405.1:c.2247_2248delinsAT NP_001357334.1:p.Leu750Phe
NM_021055.2:c.2247_2248delinsAT NP_066399.2:p.Leu750Phe
NM_021055.3:c.2247_2248delinsAT NP_066399.2:p.Leu750Phe
ENST00000219476.7:c.2247_2248delinsAT ENSP00000219476.3:p.Leu750Phe
ENST00000350773.8:c.2247_2248delinsAT ENSP00000344383.4:p.Leu750Phe
ENST00000350773.9:c.2247_2248delinsAT ENSP00000344383.4:p.Leu750Phe
ENST00000382538.10:c.2100_2101delinsAT ENSP00000371978.6:p.Leu701Phe
ENST00000401874.6:c.2247_2248delinsAT ENSP00000384468.2:p.Leu750Phe
ENST00000401874.7:c.2247_2248delinsAT ENSP00000384468.2:p.Leu750Phe
ENST00000439117.6:c.*1546_*1547delinsAT ENSP00000406980.2:n.*1546_*1547delinsAT
ENST00000439673.6:c.2136_2137delinsAT ENSP00000399232.2:p.Leu713Phe
ENST00000463808.1:n.281_282delinsAT
ENST00000563346.1:n.316_317delinsAT
ENST00000563346.2:n.425_426delinsAT
ENST00000568454.5:c.2280_2281delinsAT ENSP00000454487.1:p.Leu761Phe
ENST00000568454.6:c.2280_2281delinsAT ENSP00000454487.1:p.Leu761Phe
ENST00000568566.6:c.*794_*795delinsAT ENSP00000455997.2:n.*794_*795delinsAT
ENST00000642206.2:c.2292_2293delinsAT ENSP00000495146.2:p.Leu765Phe
ENST00000642365.1:c.904_905delinsAT
ENST00000642365.2:c.2247_2248delinsAT ENSP00000495459.2:p.Leu750Phe
ENST00000642561.1:c.2247_2248delinsAT ENSP00000495099.1:p.Leu750Phe
ENST00000642797.1:c.2247_2248delinsAT ENSP00000493846.1:p.Leu750Phe
ENST00000642936.1:c.2247_2248delinsAT ENSP00000494514.1:p.Leu750Phe
ENST00000643088.1:c.2247_2248delinsAT ENSP00000494747.1:p.Leu750Phe
ENST00000643298.1:c.*1749_*1750delinsAT ENSP00000494393.1:n.*1749_*1750delinsAT
ENST00000643946.1:c.2247_2248delinsAT ENSP00000495927.1:p.Leu750Phe
ENST00000644043.1:c.2247_2248delinsAT ENSP00000496262.1:p.Leu750Phe
ENST00000644329.1:c.2247_2248delinsAT ENSP00000496611.1:p.Leu750Phe
ENST00000644335.1:c.2247_2248delinsAT ENSP00000496317.1:p.Leu750Phe
ENST00000644399.1:c.2240_2241delinsAT
ENST00000644417.2:c.*1684_*1685delinsAT ENSP00000493912.2:n.*1684_*1685delinsAT
ENST00000644847.1:n.1239_1240delinsAT
ENST00000645024.1:n.529_530delinsAT
ENST00000645552.1:n.527_528delinsAT
ENST00000646388.1:c.2247_2248delinsAT ENSP00000495921.1:p.Leu750Phe
ENST00000646464.1:c.340_341delinsAT ENSP00000496610.1:n.340_341delinsAT
ENST00000646464.2:c.*1892_*1893delinsAT ENSP00000496610.2:n.*1892_*1893delinsAT
ENST00000646634.1:n.1260_1261delinsAT
XM_005255529.3:c.2247_2248delinsAT XP_005255586.2:p.Leu750Phe
XM_005255531.3:c.2247_2248delinsAT XP_005255588.2:p.Leu750Phe
XM_005255531.4:c.2247_2248delinsAT XP_005255588.2:p.Leu750Phe
XM_011522636.1:c.2247_2248delinsAT XP_011520938.1:p.Leu750Phe
XM_011522636.2:c.2247_2248delinsAT XP_011520938.1:p.Leu750Phe
XM_011522637.1:c.2247_2248delinsAT XP_011520939.1:p.Leu750Phe
XM_011522637.2:c.2247_2248delinsAT XP_011520939.1:p.Leu750Phe
XM_011522638.1:c.2136_2137delinsAT XP_011520940.1:p.Leu713Phe
XM_011522638.2:c.2409_2410delinsAT XP_011520940.2:p.Leu804Phe
XM_011522639.1:c.2247_2248delinsAT XP_011520941.1:p.Leu750Phe
XM_011522639.2:c.2247_2248delinsAT XP_011520941.1:p.Leu750Phe
XM_011522640.1:c.2247_2248delinsAT XP_011520942.1:p.Leu750Phe
XM_011522640.2:c.2247_2248delinsAT XP_011520942.1:p.Leu750Phe
XM_011522641.1:c.2136_2137delinsAT XP_011520943.1:p.Leu713Phe
XM_017023615.1:c.2247_2248delinsAT XP_016879104.1:p.Leu750Phe
XM_017023616.1:c.2247_2248delinsAT XP_016879105.1:p.Leu750Phe
XM_017023617.1:c.2409_2410delinsAT XP_016879106.1:p.Leu804Phe
XM_017023618.1:c.903_904delinsAT XP_016879107.1:p.Leu302Phe
XM_024450413.1:c.2247_2248delinsAT XP_024306181.1:p.Leu750Phe
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