Canonical Allele Identifier: CA2695221412
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2085326_2085348del , CM000678.2:g.2085326_2085348del GRCh38
NC_000016.9:g.2135327_2135349del , CM000678.1:g.2135327_2135349del GRCh37
NC_000016.8:g.2075328_2075350del NCBI36
NG_005895.1:g.41021_41043del , LRG_487:g.41021_41043del

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.*3011+4_*3011+26del
ENST00000642206.2:c.4509+4_4509+26del
ENST00000642365.2:c.4659+4_4659+26del
ENST00000644417.2:c.*5042+4_*5042+26del
ENST00000646464.2:c.*7411+4_*7411+26del
ENST00000219476.9:c.4662+4_4662+26del
ENST00000350773.9:c.4593+4_4593+26del
ENST00000401874.7:c.4461+4_4461+26del
ENST00000568454.6:c.4494+4_4494+26del
ENST00000569110.2:c.885+4_885+26del
ENST00000569930.2:n.2544+4_2544+26del
ENST00000642365.1:c.3316+4_3316+26del
ENST00000642561.1:c.4533+4_4533+26del
ENST00000642728.1:n.844+4_844+26del
ENST00000642791.1:n.259+4_259+26del
ENST00000642797.1:c.4464+4_4464+26del
ENST00000642936.1:c.4530+4_4530+26del
ENST00000643088.1:c.4455+4_4455+26del
ENST00000643177.1:n.676+4_676+26del
ENST00000643426.1:n.2310+4_2310+26del
ENST00000643946.1:c.4587+4_4587+26del
ENST00000644043.1:c.4533+4_4533+26del
ENST00000644278.1:n.144+4_144+26del
ENST00000644329.1:c.4461+4_4461+26del
ENST00000644335.1:c.4458+4_4458+26del
ENST00000644399.1:c.4583+4_4583+26del
ENST00000645024.1:n.2746+4_2746+26del
ENST00000646388.1:c.4656+4_4656+26del
ENST00000646634.1:n.3477+4_3477+26del
ENST00000646674.1:n.1914+4_1914+26del
ENST00000647042.1:n.1885+4_1885+26del
ENST00000647180.1:n.1775+4_1775+26del
ENST00000219476.7:c.4662+4_4662+26del
ENST00000350773.8:c.4593+4_4593+26del
ENST00000382538.10:c.4317+4_4317+26del
ENST00000401874.6:c.4461+4_4461+26del
ENST00000439117.6:c.*3829+4_*3829+26del
ENST00000439673.6:c.4353+4_4353+26del
ENST00000497886.5:n.2420+4_2420+26del
ENST00000568454.5:c.4494+4_4494+26del
ENST00000569110.1:c.844+4_844+26del
ENST00000569930.1:n.1777+4_1777+26del
NM_000548.3:c.4662+4_4662+26del , LRG_487t1:c.4662+4_4662+26del
NM_001077183.1:c.4461+4_4461+26del
NM_001114382.1:c.4593+4_4593+26del
XM_005255529.3:c.4533+4_4533+26del
XM_005255531.3:c.4464+4_4464+26del
XM_011522636.1:c.4716+4_4716+26del
XM_011522637.1:c.4713+4_4713+26del
XM_011522638.1:c.4605+4_4605+26del
XM_011522639.1:c.4587+4_4587+26del
XM_011522640.1:c.4584+4_4584+26del
XM_011522641.1:c.4353+4_4353+26del
NM_000548.4:c.4662+4_4662+26del
NM_001077183.2:c.4461+4_4461+26del
NM_001114382.2:c.4593+4_4593+26del
NM_001318827.1:c.4353+4_4353+26del
NM_001318829.1:c.4317+4_4317+26del
NM_001318831.1:c.3930+4_3930+26del
NM_001318832.1:c.4494+4_4494+26del
NM_001363528.1:c.4464+4_4464+26del
NM_021055.2:c.4533+4_4533+26del
XM_005255531.4:c.4464+4_4464+26del
XM_011522636.2:c.4716+4_4716+26del
XM_011522637.2:c.4713+4_4713+26del
XM_011522638.2:c.4878+4_4878+26del
XM_011522639.2:c.4587+4_4587+26del
XM_011522640.2:c.4584+4_4584+26del
XM_017023615.1:c.4659+4_4659+26del
XM_017023616.1:c.4530+4_4530+26del
XM_017023617.1:c.4626+4_4626+26del
XM_017023618.1:c.3372+4_3372+26del
XM_024450413.1:c.4461+4_4461+26del
NM_000548.5:c.4662+4_4662+26del
NM_001370404.1:c.4530+4_4530+26del
NM_001370405.1:c.4533+4_4533+26del
NM_001077183.3:c.4461+4_4461+26del
NM_001114382.3:c.4593+4_4593+26del
NM_001318827.2:c.4353+4_4353+26del
NM_001318829.2:c.4317+4_4317+26del
NM_001318831.2:c.3930+4_3930+26del
NM_001318832.2:c.4494+4_4494+26del
NM_001363528.2:c.4464+4_4464+26del
NM_021055.3:c.4533+4_4533+26del