Canonical Allele Identifier: CA973770608

Gene: TSC2

Linked Data

• dbSNP Id: rs2091134355
• gnomAD v3: 16-2088252-GCTCCAAC-G
• gnomAD v4: 16-2088252-GCTCCAAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088254_2088260del , CM000678.2:g.2088254_2088260del	GRCh38
NC_000016.9:g.2138255_2138261del , CM000678.1:g.2138255_2138261del	GRCh37
NC_000016.8:g.2078256_2078262del	NCBI36
NG_005895.1:g.43949_43955del , LRG_487:g.43949_43955del
NG_008617.1:g.54962_54968del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3537_*3543del	ENSP00000455997.2:n.*3537_*3543del
ENST00000642206.2:c.5035_5041del	ENSP00000495146.2:p.Ser1679ProfsTer?
ENST00000642365.2:c.5185_5191del	ENSP00000495459.2:p.Ser1729ProfsTer?
ENST00000644417.2:c.*5701_*5707del	ENSP00000493912.2:n.*5701_*5707del
ENST00000646464.2:c.*7937_*7943del	ENSP00000496610.2:n.*7937_*7943del
ENST00000219476.9:c.5188_5194del MANE Select	ENSP00000219476.3:p.Ser1730ProfsTer?
ENST00000350773.9:c.5119_5125del	ENSP00000344383.4:p.Ser1707ProfsTer?
ENST00000401874.7:c.4987_4993del	ENSP00000384468.2:p.Ser1663ProfsTer?
ENST00000568454.6:c.5020_5026del	ENSP00000454487.1:p.Ser1674ProfsTer?
ENST00000569110.2:c.1411_1417del
ENST00000569930.2:n.3070_3076del
ENST00000642365.1:c.3842_3848del
ENST00000642561.1:c.5047_5053del	ENSP00000495099.1:p.Ser1683ProfsTer?
ENST00000642791.1:n.785_791del
ENST00000642797.1:c.4990_4996del	ENSP00000493846.1:p.Ser1664ProfsTer?
ENST00000642936.1:c.5056_5062del	ENSP00000494514.1:p.Ser1686ProfsTer?
ENST00000643088.1:c.4981_4987del	ENSP00000494747.1:p.Ser1661ProfsTer?
ENST00000643426.1:n.2836_2842del
ENST00000643946.1:c.5113_5119del	ENSP00000495927.1:p.Ser1705ProfsTer?
ENST00000644043.1:c.5059_5065del	ENSP00000496262.1:p.Ser1687ProfsTer?
ENST00000644329.1:c.5074_5080del	ENSP00000496611.1:p.Ser1692ProfsTer?
ENST00000644335.1:c.4984_4990del	ENSP00000496317.1:p.Ser1662ProfsTer?
ENST00000644399.1:c.5109_5115del
ENST00000645024.1:n.3272_3278del
ENST00000646388.1:c.5182_5188del	ENSP00000495921.1:p.Ser1728ProfsTer?
ENST00000646634.1:n.4003_4009del
ENST00000646674.1:n.2440_2446del
ENST00000647042.1:n.2411_2417del
ENST00000647180.1:n.2301_2307del
ENST00000219476.7:c.5188_5194del	ENSP00000219476.3:p.Ser1730ProfsTer?
ENST00000350773.8:c.5119_5125del	ENSP00000344383.4:p.Ser1707ProfsTer?
ENST00000382538.10:c.4843_4849del	ENSP00000371978.6:p.Ser1615ProfsTer?
ENST00000401874.6:c.4987_4993del	ENSP00000384468.2:p.Ser1663ProfsTer?
ENST00000439117.6:c.*4355_*4361del	ENSP00000406980.2:n.*4355_*4361del
ENST00000439673.6:c.4879_4885del	ENSP00000399232.2:p.Ser1627ProfsTer?
ENST00000497886.5:n.2911_2917del
ENST00000568454.5:c.5020_5026del	ENSP00000454487.1:p.Ser1674ProfsTer?
ENST00000569110.1:c.1370_1376del
ENST00000569930.1:n.2303_2309del
NM_000548.3:c.5188_5194del , LRG_487t1:c.5188_5194del	NP_000539.2:p.Ser1730ProfsTer?
NM_001077183.1:c.4987_4993del	NP_001070651.1:p.Ser1663ProfsTer?
NM_001114382.1:c.5119_5125del	NP_001107854.1:p.Ser1707ProfsTer?
XM_005255529.3:c.5059_5065del	XP_005255586.2:p.Ser1687ProfsTer?
XM_005255531.3:c.4990_4996del	XP_005255588.2:p.Ser1664ProfsTer?
XM_011522636.1:c.5242_5248del	XP_011520938.1:p.Ser1748ProfsTer?
XM_011522637.1:c.5239_5245del	XP_011520939.1:p.Ser1747ProfsTer?
XM_011522638.1:c.5131_5137del	XP_011520940.1:p.Ser1711ProfsTer?
XM_011522639.1:c.5113_5119del	XP_011520941.1:p.Ser1705ProfsTer?
XM_011522640.1:c.5110_5116del	XP_011520942.1:p.Ser1704ProfsTer?
XM_011522641.1:c.4879_4885del	XP_011520943.1:p.Ser1627ProfsTer?
NM_000548.4:c.5188_5194del	NP_000539.2:p.Ser1730ProfsTer?
NM_001077183.2:c.4987_4993del	NP_001070651.1:p.Ser1663ProfsTer?
NM_001114382.2:c.5119_5125del	NP_001107854.1:p.Ser1707ProfsTer?
NM_001318827.1:c.4879_4885del	NP_001305756.1:p.Ser1627ProfsTer?
NM_001318829.1:c.4843_4849del	NP_001305758.1:p.Ser1615ProfsTer?
NM_001318831.1:c.4456_4462del	NP_001305760.1:p.Ser1486ProfsTer?
NM_001318832.1:c.5020_5026del	NP_001305761.1:p.Ser1674ProfsTer?
NM_001363528.1:c.4990_4996del	NP_001350457.1:p.Ser1664ProfsTer?
NM_021055.2:c.5059_5065del	NP_066399.2:p.Ser1687ProfsTer?
XM_005255531.4:c.4990_4996del	XP_005255588.2:p.Ser1664ProfsTer?
XM_011522636.2:c.5242_5248del	XP_011520938.1:p.Ser1748ProfsTer?
XM_011522637.2:c.5239_5245del	XP_011520939.1:p.Ser1747ProfsTer?
XM_011522638.2:c.5404_5410del	XP_011520940.2:p.Ser1802ProfsTer?
XM_011522639.2:c.5113_5119del	XP_011520941.1:p.Ser1705ProfsTer?
XM_011522640.2:c.5110_5116del	XP_011520942.1:p.Ser1704ProfsTer?
XM_017023615.1:c.5185_5191del	XP_016879104.1:p.Ser1729ProfsTer?
XM_017023616.1:c.5056_5062del	XP_016879105.1:p.Ser1686ProfsTer?
XM_017023617.1:c.5152_5158del	XP_016879106.1:p.Ser1718ProfsTer?
XM_017023618.1:c.3898_3904del	XP_016879107.1:p.Ser1300ProfsTer?
XM_024450413.1:c.5074_5080del	XP_024306181.1:p.Ser1692ProfsTer?
NM_000548.5:c.5188_5194del MANE Select	NP_000539.2:p.Ser1730ProfsTer?
NM_001370404.1:c.5056_5062del	NP_001357333.1:p.Ser1686ProfsTer?
NM_001370405.1:c.5047_5053del	NP_001357334.1:p.Ser1683ProfsTer?
NM_001077183.3:c.4987_4993del	NP_001070651.1:p.Ser1663ProfsTer?
NM_001114382.3:c.5119_5125del	NP_001107854.1:p.Ser1707ProfsTer?
NM_001318827.2:c.4879_4885del	NP_001305756.1:p.Ser1627ProfsTer?
NM_001318829.2:c.4843_4849del	NP_001305758.1:p.Ser1615ProfsTer?
NM_001318831.2:c.4456_4462del	NP_001305760.1:p.Ser1486ProfsTer?
NM_001318832.2:c.5020_5026del	NP_001305761.1:p.Ser1674ProfsTer?
NM_001363528.2:c.4990_4996del	NP_001350457.1:p.Ser1664ProfsTer?
NM_021055.3:c.5059_5065del	NP_066399.2:p.Ser1687ProfsTer?