Canonical Allele Identifier: CA2202030965

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088139_2088161delinsTGTGAGTGGGGGTGGGTCCAGGC , CM000678.2:g.2088139_2088161delinsTGTGAGTGGGGGTGGGTCCAGGC	GRCh38
NC_000016.9:g.2138140_2138162delinsTGTGAGTGGGGGTGGGTCCAGGC , CM000678.1:g.2138140_2138162delinsTGTGAGTGGGGGTGGGTCCAGGC	GRCh37
NC_000016.8:g.2078141_2078163delinsTGTGAGTGGGGGTGGGTCCAGGC	NCBI36
NG_005895.1:g.43834_43856delinsTGTGAGTGGGGGTGGGTCCAGGC , LRG_487:g.43834_43856delinsTGTGAGTGGGGGTGGGTCCAGGC
NG_008617.1:g.55060_55082delinsGCCTGGACCCACCCCCACTCACA

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3509_*3509+22delinsTGTGAGTGGGGGTGGGTCCAGGC
ENST00000642206.2:c.5007_5007+22delinsTGTGAGTGGGGGTGGGTCCAGGC
ENST00000642365.2:c.5157_5157+22delinsTGTGAGTGGGGGTGGGTCCAGGC
ENST00000644417.2:c.*5673_*5673+22delinsTGTGAGTGGGGGTGGGTCCAGGC
ENST00000646464.2:c.*7909_*7909+22delinsTGTGAGTGGGGGTGGGTCCAGGC
ENST00000219476.9:c.5160_5160+22delinsTGTGAGTGGGGGTGGGTCCAGGC
ENST00000350773.9:c.5091_5091+22delinsTGTGAGTGGGGGTGGGTCCAGGC
ENST00000401874.7:c.4959_4959+22delinsTGTGAGTGGGGGTGGGTCCAGGC
ENST00000568454.6:c.4992_4992+22delinsTGTGAGTGGGGGTGGGTCCAGGC
ENST00000569110.2:c.1383_1383+22delinsTGTGAGTGGGGGTGGGTCCAGGC
ENST00000569930.2:n.3042_3042+22delinsTGTGAGTGGGGGTGGGTCCAGGC
ENST00000642365.1:c.3814_3814+22delinsTGTGAGTGGGGGTGGGTCCAGGC
ENST00000642561.1:c.5031_5031+22delinsTGTGAGTGGGGGTGGGTCCAGGC
ENST00000642791.1:n.757_757+22delinsTGTGAGTGGGGGTGGGTCCAGGC
ENST00000642797.1:c.4962_4962+22delinsTGTGAGTGGGGGTGGGTCCAGGC
ENST00000642936.1:c.5028_5028+22delinsTGTGAGTGGGGGTGGGTCCAGGC
ENST00000643088.1:c.4953_4953+22delinsTGTGAGTGGGGGTGGGTCCAGGC
ENST00000643426.1:n.2808_2808+22delinsTGTGAGTGGGGGTGGGTCCAGGC
ENST00000643946.1:c.5085_5085+22delinsTGTGAGTGGGGGTGGGTCCAGGC
ENST00000644043.1:c.5031_5031+22delinsTGTGAGTGGGGGTGGGTCCAGGC
ENST00000644329.1:c.4959_4981delinsTGTGAGTGGGGGTGGGTCCAGGC	ENSP00000496611.1:p.Asn1653=
ENST00000644335.1:c.4956_4956+22delinsTGTGAGTGGGGGTGGGTCCAGGC
ENST00000644399.1:c.5081_5081+22delinsTGTGAGTGGGGGTGGGTCCAGGC
ENST00000645024.1:n.3244_3244+22delinsTGTGAGTGGGGGTGGGTCCAGGC
ENST00000646388.1:c.5154_5154+22delinsTGTGAGTGGGGGTGGGTCCAGGC
ENST00000646634.1:n.3975_3975+22delinsTGTGAGTGGGGGTGGGTCCAGGC
ENST00000646674.1:n.2412_2412+22delinsTGTGAGTGGGGGTGGGTCCAGGC
ENST00000647042.1:n.2383_2383+22delinsTGTGAGTGGGGGTGGGTCCAGGC
ENST00000647180.1:n.2273_2273+22delinsTGTGAGTGGGGGTGGGTCCAGGC
ENST00000219476.7:c.5160_5160+22delinsTGTGAGTGGGGGTGGGTCCAGGC
ENST00000350773.8:c.5091_5091+22delinsTGTGAGTGGGGGTGGGTCCAGGC
ENST00000382538.10:c.4815_4815+22delinsTGTGAGTGGGGGTGGGTCCAGGC
ENST00000401874.6:c.4959_4959+22delinsTGTGAGTGGGGGTGGGTCCAGGC
ENST00000439117.6:c.*4327_*4327+22delinsTGTGAGTGGGGGTGGGTCCAGGC
ENST00000439673.6:c.4851_4851+22delinsTGTGAGTGGGGGTGGGTCCAGGC
ENST00000497886.5:n.2883_2883+22delinsTGTGAGTGGGGGTGGGTCCAGGC
ENST00000568454.5:c.4992_4992+22delinsTGTGAGTGGGGGTGGGTCCAGGC
ENST00000569110.1:c.1342_1342+22delinsTGTGAGTGGGGGTGGGTCCAGGC
ENST00000569930.1:n.2275_2275+22delinsTGTGAGTGGGGGTGGGTCCAGGC
NM_000548.3:c.5160_5160+22delinsTGTGAGTGGGGGTGGGTCCAGGC , LRG_487t1:c.5160_5160+22delinsTGTGAGTGGGGGTGGGTCCAGGC
NM_001077183.1:c.4959_4959+22delinsTGTGAGTGGGGGTGGGTCCAGGC
NM_001114382.1:c.5091_5091+22delinsTGTGAGTGGGGGTGGGTCCAGGC
XM_005255529.3:c.5031_5031+22delinsTGTGAGTGGGGGTGGGTCCAGGC
XM_005255531.3:c.4962_4962+22delinsTGTGAGTGGGGGTGGGTCCAGGC
XM_011522636.1:c.5214_5214+22delinsTGTGAGTGGGGGTGGGTCCAGGC
XM_011522637.1:c.5211_5211+22delinsTGTGAGTGGGGGTGGGTCCAGGC
XM_011522638.1:c.5103_5103+22delinsTGTGAGTGGGGGTGGGTCCAGGC
XM_011522639.1:c.5085_5085+22delinsTGTGAGTGGGGGTGGGTCCAGGC
XM_011522640.1:c.5082_5082+22delinsTGTGAGTGGGGGTGGGTCCAGGC
XM_011522641.1:c.4851_4851+22delinsTGTGAGTGGGGGTGGGTCCAGGC
NM_000548.4:c.5160_5160+22delinsTGTGAGTGGGGGTGGGTCCAGGC
NM_001077183.2:c.4959_4959+22delinsTGTGAGTGGGGGTGGGTCCAGGC
NM_001114382.2:c.5091_5091+22delinsTGTGAGTGGGGGTGGGTCCAGGC
NM_001318827.1:c.4851_4851+22delinsTGTGAGTGGGGGTGGGTCCAGGC
NM_001318829.1:c.4815_4815+22delinsTGTGAGTGGGGGTGGGTCCAGGC
NM_001318831.1:c.4428_4428+22delinsTGTGAGTGGGGGTGGGTCCAGGC
NM_001318832.1:c.4992_4992+22delinsTGTGAGTGGGGGTGGGTCCAGGC
NM_001363528.1:c.4962_4962+22delinsTGTGAGTGGGGGTGGGTCCAGGC
NM_021055.2:c.5031_5031+22delinsTGTGAGTGGGGGTGGGTCCAGGC
XM_005255531.4:c.4962_4962+22delinsTGTGAGTGGGGGTGGGTCCAGGC
XM_011522636.2:c.5214_5214+22delinsTGTGAGTGGGGGTGGGTCCAGGC
XM_011522637.2:c.5211_5211+22delinsTGTGAGTGGGGGTGGGTCCAGGC
XM_011522638.2:c.5376_5376+22delinsTGTGAGTGGGGGTGGGTCCAGGC
XM_011522639.2:c.5085_5085+22delinsTGTGAGTGGGGGTGGGTCCAGGC
XM_011522640.2:c.5082_5082+22delinsTGTGAGTGGGGGTGGGTCCAGGC
XM_017023615.1:c.5157_5157+22delinsTGTGAGTGGGGGTGGGTCCAGGC
XM_017023616.1:c.5028_5028+22delinsTGTGAGTGGGGGTGGGTCCAGGC
XM_017023617.1:c.5124_5124+22delinsTGTGAGTGGGGGTGGGTCCAGGC
XM_017023618.1:c.3870_3870+22delinsTGTGAGTGGGGGTGGGTCCAGGC
XM_024450413.1:c.4959_4981delinsTGTGAGTGGGGGTGGGTCCAGGC	XP_024306181.1:p.Asn1653=
NM_000548.5:c.5160_5160+22delinsTGTGAGTGGGGGTGGGTCCAGGC
NM_001370404.1:c.5028_5028+22delinsTGTGAGTGGGGGTGGGTCCAGGC
NM_001370405.1:c.5031_5031+22delinsTGTGAGTGGGGGTGGGTCCAGGC
NM_001077183.3:c.4959_4959+22delinsTGTGAGTGGGGGTGGGTCCAGGC
NM_001114382.3:c.5091_5091+22delinsTGTGAGTGGGGGTGGGTCCAGGC
NM_001318827.2:c.4851_4851+22delinsTGTGAGTGGGGGTGGGTCCAGGC
NM_001318829.2:c.4815_4815+22delinsTGTGAGTGGGGGTGGGTCCAGGC
NM_001318831.2:c.4428_4428+22delinsTGTGAGTGGGGGTGGGTCCAGGC
NM_001318832.2:c.4992_4992+22delinsTGTGAGTGGGGGTGGGTCCAGGC
NM_001363528.2:c.4962_4962+22delinsTGTGAGTGGGGGTGGGTCCAGGC
NM_021055.3:c.5031_5031+22delinsTGTGAGTGGGGGTGGGTCCAGGC