Canonical Allele Identifier: CA3246641963
Community Standard Title: NM_000548.5(TSC2):c.2580_2584delinsCGCCA (p.Ala862Thr)
Gene: TSC2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2075833_2075837delinsCGCCA , CM000678.2:g.2075833_2075837delinsCGCCA GRCh38
NC_000016.9:g.2125834_2125838delinsCGCCA , CM000678.1:g.2125834_2125838delinsCGCCA GRCh37
NC_000016.8:g.2065835_2065839delinsCGCCA NCBI36
NG_005895.1:g.31528_31532delinsCGCCA , LRG_487:g.31528_31532delinsCGCCA

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.2580_2584delinsCGCCA MANE Select NP_000539.2:p.Ala862Thr
ENST00000219476.9:c.2580_2584delinsCGCCA MANE Select ENSP00000219476.3:p.Ala862Thr
NM_000548.3:c.2580_2584delinsCGCCA , LRG_487t1:c.2580_2584delinsCGCCA NP_000539.2:p.Ala862Thr
NM_000548.4:c.2580_2584delinsCGCCA NP_000539.2:p.Ala862Thr
NM_001077183.1:c.2580_2584delinsCGCCA NP_001070651.1:p.Ala862Thr
NM_001077183.2:c.2580_2584delinsCGCCA NP_001070651.1:p.Ala862Thr
NM_001077183.3:c.2580_2584delinsCGCCA NP_001070651.1:p.Ala862Thr
NM_001114382.1:c.2580_2584delinsCGCCA NP_001107854.1:p.Ala862Thr
NM_001114382.2:c.2580_2584delinsCGCCA NP_001107854.1:p.Ala862Thr
NM_001114382.3:c.2580_2584delinsCGCCA NP_001107854.1:p.Ala862Thr
NM_001318827.1:c.2469_2473delinsCGCCA NP_001305756.1:p.Ala825Thr
NM_001318827.2:c.2469_2473delinsCGCCA NP_001305756.1:p.Ala825Thr
NM_001318829.1:c.2433_2437delinsCGCCA NP_001305758.1:p.Ala813Thr
NM_001318829.2:c.2433_2437delinsCGCCA NP_001305758.1:p.Ala813Thr
NM_001318831.1:c.1980_1984delinsCGCCA NP_001305760.1:p.Ala662Thr
NM_001318831.2:c.1980_1984delinsCGCCA NP_001305760.1:p.Ala662Thr
NM_001318832.1:c.2613_2617delinsCGCCA NP_001305761.1:p.Ala873Thr
NM_001318832.2:c.2613_2617delinsCGCCA NP_001305761.1:p.Ala873Thr
NM_001363528.1:c.2580_2584delinsCGCCA NP_001350457.1:p.Ala862Thr
NM_001363528.2:c.2580_2584delinsCGCCA NP_001350457.1:p.Ala862Thr
NM_001370404.1:c.2580_2584delinsCGCCA NP_001357333.1:p.Ala862Thr
NM_001370405.1:c.2580_2584delinsCGCCA NP_001357334.1:p.Ala862Thr
NM_021055.2:c.2580_2584delinsCGCCA NP_066399.2:p.Ala862Thr
NM_021055.3:c.2580_2584delinsCGCCA NP_066399.2:p.Ala862Thr
ENST00000219476.7:c.2580_2584delinsCGCCA ENSP00000219476.3:p.Ala862Thr
ENST00000350773.8:c.2580_2584delinsCGCCA ENSP00000344383.4:p.Ala862Thr
ENST00000350773.9:c.2580_2584delinsCGCCA ENSP00000344383.4:p.Ala862Thr
ENST00000382538.10:c.2433_2437delinsCGCCA ENSP00000371978.6:p.Ala813Thr
ENST00000401874.6:c.2580_2584delinsCGCCA ENSP00000384468.2:p.Ala862Thr
ENST00000401874.7:c.2580_2584delinsCGCCA ENSP00000384468.2:p.Ala862Thr
ENST00000439117.6:c.*1879_*1883delinsCGCCA ENSP00000406980.2:n.*1879_*1883delinsCGCCA
ENST00000439673.6:c.2469_2473delinsCGCCA ENSP00000399232.2:p.Ala825Thr
ENST00000568454.5:c.2613_2617delinsCGCCA ENSP00000454487.1:p.Ala873Thr
ENST00000568454.6:c.2613_2617delinsCGCCA ENSP00000454487.1:p.Ala873Thr
ENST00000568566.6:c.*1127_*1131delinsCGCCA ENSP00000455997.2:n.*1127_*1131delinsCGCCA
ENST00000642206.2:c.2625_2629delinsCGCCA ENSP00000495146.2:p.Ala877Thr
ENST00000642365.1:c.1237_1241delinsCGCCA
ENST00000642365.2:c.2580_2584delinsCGCCA ENSP00000495459.2:p.Ala862Thr
ENST00000642561.1:c.2580_2584delinsCGCCA ENSP00000495099.1:p.Ala862Thr
ENST00000642797.1:c.2580_2584delinsCGCCA ENSP00000493846.1:p.Ala862Thr
ENST00000642936.1:c.2580_2584delinsCGCCA ENSP00000494514.1:p.Ala862Thr
ENST00000643088.1:c.2580_2584delinsCGCCA ENSP00000494747.1:p.Ala862Thr
ENST00000643298.1:c.*2082_*2086delinsCGCCA ENSP00000494393.1:n.*2082_*2086delinsCGCCA
ENST00000643946.1:c.2580_2584delinsCGCCA ENSP00000495927.1:p.Ala862Thr
ENST00000644043.1:c.2580_2584delinsCGCCA ENSP00000496262.1:p.Ala862Thr
ENST00000644329.1:c.2580_2584delinsCGCCA ENSP00000496611.1:p.Ala862Thr
ENST00000644335.1:c.2580_2584delinsCGCCA ENSP00000496317.1:p.Ala862Thr
ENST00000644399.1:c.2573_2577delinsCGCCA
ENST00000644417.2:c.*2017_*2021delinsCGCCA ENSP00000493912.2:n.*2017_*2021delinsCGCCA
ENST00000645024.1:n.862_866delinsCGCCA
ENST00000646388.1:c.2580_2584delinsCGCCA ENSP00000495921.1:p.Ala862Thr
ENST00000646464.2:c.*3634_*3638delinsCGCCA ENSP00000496610.2:n.*3634_*3638delinsCGCCA
ENST00000646634.1:n.1593_1597delinsCGCCA
XM_005255529.3:c.2580_2584delinsCGCCA XP_005255586.2:p.Ala862Thr
XM_005255531.3:c.2580_2584delinsCGCCA XP_005255588.2:p.Ala862Thr
XM_005255531.4:c.2580_2584delinsCGCCA XP_005255588.2:p.Ala862Thr
XM_011522636.1:c.2580_2584delinsCGCCA XP_011520938.1:p.Ala862Thr
XM_011522636.2:c.2580_2584delinsCGCCA XP_011520938.1:p.Ala862Thr
XM_011522637.1:c.2580_2584delinsCGCCA XP_011520939.1:p.Ala862Thr
XM_011522637.2:c.2580_2584delinsCGCCA XP_011520939.1:p.Ala862Thr
XM_011522638.1:c.2469_2473delinsCGCCA XP_011520940.1:p.Ala825Thr
XM_011522638.2:c.2742_2746delinsCGCCA XP_011520940.2:p.Ala916Thr
XM_011522639.1:c.2580_2584delinsCGCCA XP_011520941.1:p.Ala862Thr
XM_011522639.2:c.2580_2584delinsCGCCA XP_011520941.1:p.Ala862Thr
XM_011522640.1:c.2580_2584delinsCGCCA XP_011520942.1:p.Ala862Thr
XM_011522640.2:c.2580_2584delinsCGCCA XP_011520942.1:p.Ala862Thr
XM_011522641.1:c.2469_2473delinsCGCCA XP_011520943.1:p.Ala825Thr
XM_017023615.1:c.2580_2584delinsCGCCA XP_016879104.1:p.Ala862Thr
XM_017023616.1:c.2580_2584delinsCGCCA XP_016879105.1:p.Ala862Thr
XM_017023617.1:c.2742_2746delinsCGCCA XP_016879106.1:p.Ala916Thr
XM_017023618.1:c.1236_1240delinsCGCCA XP_016879107.1:p.Ala414Thr
XM_024450413.1:c.2580_2584delinsCGCCA XP_024306181.1:p.Ala862Thr
Search 100 bp 5'
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