Canonical Allele Identifier: CA3267547581
Community Standard Title: NC_000016.10:g.2080168_2084498del
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2080168_2084498del , CM000678.2:g.2080168_2084498del GRCh38
NC_000016.9:g.2130169_2134499del , CM000678.1:g.2130169_2134499del GRCh37
NC_000016.8:g.2070170_2074500del NCBI36
NG_005895.1:g.35863_40193del , LRG_487:g.35863_40193del

Transcript Alleles

HGVS Amino-acid Change
NM_000548.3:c.3401_4276del , LRG_487t1:c.3401_4276del
NM_000548.4:c.3401_4276del
NM_000548.5:c.3401_4276del
NM_001077183.1:c.3269_4075del
NM_001077183.2:c.3269_4075del
NM_001077183.3:c.3269_4075del
NM_001114382.1:c.3401_4207del
NM_001114382.2:c.3401_4207del
NM_001114382.3:c.3401_4207del
NM_001318827.1:c.3161_3967del
NM_001318827.2:c.3161_3967del
NM_001318829.1:c.3125_3931del
NM_001318829.2:c.3125_3931del
NM_001318831.1:c.2669_3544del
NM_001318831.2:c.2669_3544del
NM_001318832.1:c.3302_4108del
NM_001318832.2:c.3302_4108del
NM_001363528.1:c.3272_4078del
NM_001363528.2:c.3272_4078del
NM_001370404.1:c.3269_4144del
NM_001370405.1:c.3272_4147del
NM_021055.2:c.3272_4147del
NM_021055.3:c.3272_4147del
ENST00000219476.7:c.3401_4276del
ENST00000219476.9:c.3401_4276del
ENST00000350773.8:c.3401_4207del
ENST00000350773.9:c.3401_4207del
ENST00000382538.10:c.3125_3931del
ENST00000401874.6:c.3269_4075del
ENST00000401874.7:c.3269_4075del
ENST00000439117.6:c.*2568_*3443del
ENST00000439673.6:c.3161_3967del
ENST00000497886.5:n.1228_2034del
ENST00000568454.5:c.3302_4108del
ENST00000568454.6:c.3302_4108del
ENST00000568566.6:c.*1819_*2625del
ENST00000642206.2:c.3317_4123del
ENST00000642365.1:c.2055_2930del
ENST00000642365.2:c.3398_4273del
ENST00000642561.1:c.3272_4147del
ENST00000642797.1:c.3272_4078del
ENST00000642936.1:c.3269_4144del
ENST00000643088.1:c.3269_4075del
ENST00000643946.1:c.3401_4207del
ENST00000644043.1:c.3272_4147del
ENST00000644329.1:c.3269_4075del
ENST00000644335.1:c.3272_4078del
ENST00000644399.1:c.3391_4197del
ENST00000644417.2:c.*3850_*4656del
ENST00000645024.1:n.1554_2360del
ENST00000646388.1:c.3401_4276del
ENST00000646464.2:c.*4323_*7025del
ENST00000646634.1:n.2285_3091del
ENST00000646674.1:n.16_1528del
ENST00000647042.1:n.693_1499del
XM_005255529.3:c.3272_4147del
XM_005255531.3:c.3272_4078del
XM_005255531.4:c.3272_4078del
XM_011522636.1:c.3401_4330del
XM_011522636.2:c.3401_4330del
XM_011522637.1:c.3398_4327del
XM_011522637.2:c.3398_4327del
XM_011522638.1:c.3290_4219del
XM_011522638.2:c.3563_4492del
XM_011522639.1:c.3272_4201del
XM_011522639.2:c.3272_4201del
XM_011522640.1:c.3269_4198del
XM_011522640.2:c.3269_4198del
XM_011522641.1:c.3161_3967del
XM_017023615.1:c.3398_4273del
XM_017023616.1:c.3269_4144del
XM_017023617.1:c.3434_4240del
XM_017023618.1:c.2057_2986del
XM_024450413.1:c.3269_4075del