Canonical Allele Identifier: CA10603025

Gene: TSC1

Linked Data

• ClinVar Variation Id: 280887
• ClinVar RCV Id: RCV000342164
• dbSNP Id: rs886042012
• MyVariant Identifiers: chr9:g.135779126_135779171dup46 (hg19) ; chr9:g.135779125_135779126insAAACGCTCATAGAGTAACTGGTTGTGCAGTAAAAGCAACTGGTCTC (hg19) ; chr9:g.132903739_132903784dup46 (hg38) ; chr9:g.132903738_132903739insAAACGCTCATAGAGTAACTGGTTGTGCAGTAAAAGCAACTGGTCTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132903739_132903784dup , CM000671.2:g.132903739_132903784dup	GRCh38
NC_000009.11:g.135779126_135779171dup , CM000671.1:g.135779126_135779171dup	GRCh37
NC_000009.10:g.134768947_134768992dup	NCBI36
NG_012386.1:g.45850_45895dup , LRG_486:g.45850_45895dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2072_2117dup	ENSP00000496126.2:p.Phe706LeufsTer14
ENST00000490179.4:c.2075_2120dup	ENSP00000495533.2:p.Phe707LeufsTer14
ENST00000642261.2:c.2075_2120dup	ENSP00000494743.2:p.Phe707LeufsTer14
ENST00000643275.2:c.*15_*60dup	ENSP00000495598.2:n.*15_*60dup
ENST00000643362.2:c.1688_1733dup	ENSP00000496398.2:p.Phe578LeufsTer14
ENST00000643625.2:c.2041+627_2041+672dup	ENSP00000495546.2:n.2041+627_2041+672dup
ENST00000643691.2:c.1712_1757dup	ENSP00000494916.2:p.Phe586LeufsTer14
ENST00000644184.2:c.2075_2120dup	ENSP00000495428.2:p.Phe707LeufsTer14
ENST00000645129.2:c.1919_1964dup	ENSP00000493639.2:p.Phe655LeufsTer14
ENST00000646440.2:c.2075_2120dup	ENSP00000495830.2:p.Phe707LeufsTer14
ENST00000298552.9:c.2075_2120dup MANE Select	ENSP00000298552.3:p.Phe707LeufsTer14
ENST00000642261.1:c.139_184dup
ENST00000642617.1:c.2072_2117dup	ENSP00000493773.1:p.Phe706LeufsTer14
ENST00000642627.1:c.2057_2102dup	ENSP00000496772.1:p.Phe701LeufsTer14
ENST00000642811.1:c.*1845_*1890dup	ENSP00000495554.1:n.*1845_*1890dup
ENST00000643072.1:c.1922_1967dup	ENSP00000496691.1:p.Phe656LeufsTer14
ENST00000643275.1:c.549_594dup	ENSP00000495598.1:n.549_594dup
ENST00000643583.1:c.2060_2105dup	ENSP00000494685.1:p.Phe702LeufsTer14
ENST00000643625.1:c.85+627_85+672dup	ENSP00000495546.1:n.85+627_85+672dup
ENST00000643875.1:c.2075_2120dup	ENSP00000495158.1:p.Phe707LeufsTer14
ENST00000644097.1:c.2072_2117dup	ENSP00000494682.1:p.Phe706LeufsTer14
ENST00000644184.1:c.812_857dup	ENSP00000495428.1:p.Phe286LeufsTer14
ENST00000644255.1:c.*1842_*1887dup	ENSP00000493608.1:n.*1842_*1887dup
ENST00000644319.1:n.2450_2495dup
ENST00000644882.1:n.1030_1075dup
ENST00000645901.1:n.2926_2971dup
ENST00000646391.1:c.*1845_*1890dup	ENSP00000494104.1:n.*1845_*1890dup
ENST00000646625.1:c.2075_2120dup	ENSP00000496263.1:p.Phe707LeufsTer14
ENST00000647262.1:n.1040_1085dup
ENST00000647279.1:c.*1314_*1359dup	ENSP00000494502.1:n.*1314_*1359dup
ENST00000647506.1:n.2951_2996dup
ENST00000647534.1:n.1139_1184dup
ENST00000298552.7:c.2075_2120dup	ENSP00000298552.3:p.Phe707LeufsTer14
ENST00000440111.6:c.2075_2120dup	ENSP00000394524.2:p.Phe707LeufsTer14
ENST00000545250.5:c.1922_1967dup	ENSP00000444017.1:p.Phe656LeufsTer14
NM_000368.4:c.2075_2120dup , LRG_486t1:c.2075_2120dup	NP_000359.1:p.Phe707LeufsTer14
NM_001162426.1:c.2072_2117dup	NP_001155898.1:p.Phe706LeufsTer14
NM_001162427.1:c.1922_1967dup	NP_001155899.1:p.Phe656LeufsTer14
XM_005272211.1:c.2075_2120dup	XP_005272268.1:p.Phe707LeufsTer14
XM_006717271.1:c.2075_2120dup	XP_006717334.1:p.Phe707LeufsTer14
XM_011518979.1:c.2075_2120dup	XP_011517281.1:p.Phe707LeufsTer14
NM_001362177.1:c.1712_1757dup	NP_001349106.1:p.Phe586LeufsTer14
XM_011518979.2:c.2075_2120dup	XP_011517281.1:p.Phe707LeufsTer14
XM_017015096.1:c.2075_2120dup	XP_016870585.1:p.Phe707LeufsTer14
XM_017015097.1:c.2075_2120dup	XP_016870586.1:p.Phe707LeufsTer14
XM_017015098.1:c.2072_2117dup	XP_016870587.1:p.Phe706LeufsTer14
XM_017015100.1:c.1712_1757dup	XP_016870589.1:p.Phe586LeufsTer14
XM_017015101.1:c.1709_1754dup	XP_016870590.1:p.Phe585LeufsTer14
NM_000368.5:c.2075_2120dup MANE Select	NP_000359.1:p.Phe707LeufsTer14
NM_001162426.2:c.2072_2117dup	NP_001155898.1:p.Phe706LeufsTer14
NM_001162427.2:c.1922_1967dup	NP_001155899.1:p.Phe656LeufsTer14
NM_001362177.2:c.1712_1757dup	NP_001349106.1:p.Phe586LeufsTer14