Canonical Allele Identifier: CA264264

Gene: TSC1

Linked Data

• ClinVar Variation Id: 64742
• ClinVar RCV Id: RCV000054924
• dbSNP Id: rs397514803
• MyVariant Identifiers: chr9:g.135779093_135779100dupCGCCTGTT (hg19) ; chr9:g.135779092_135779093insCGCCTGTT (hg19) ; chr9:g.132903706_132903713dupCGCCTGTT (hg38) ; chr9:g.132903705_132903706insCGCCTGTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132903707_132903714dup , CM000671.2:g.132903707_132903714dup	GRCh38
NC_000009.11:g.135779094_135779101dup , CM000671.1:g.135779094_135779101dup	GRCh37
NC_000009.10:g.134768915_134768922dup	NCBI36
NG_012386.1:g.45921_45928dup , LRG_486:g.45921_45928dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000475903.7:c.2143_2150dup	ENSP00000496126.2:p.Leu718ThrfsTer8
ENST00000490179.4:c.2146_2153dup	ENSP00000495533.2:p.Leu719ThrfsTer8
ENST00000642261.2:c.2146_2153dup	ENSP00000494743.2:p.Leu719ThrfsTer8
ENST00000643275.2:c.*86_*93dup	ENSP00000495598.2:n.*86_*93dup
ENST00000643362.2:c.1759_1766dup	ENSP00000496398.2:p.Leu590ThrfsTer8
ENST00000643625.2:c.2041+698_2041+705dup	ENSP00000495546.2:n.2041+698_2041+705dup
ENST00000643691.2:c.1783_1790dup	ENSP00000494916.2:p.Leu598ThrfsTer8
ENST00000644184.2:c.2146_2153dup	ENSP00000495428.2:p.Leu719ThrfsTer8
ENST00000645129.2:c.1990_1997dup	ENSP00000493639.2:p.Leu667ThrfsTer8
ENST00000646440.2:c.2146_2153dup	ENSP00000495830.2:p.Leu719ThrfsTer8
ENST00000298552.9:c.2146_2153dup MANE Select	ENSP00000298552.3:p.Leu719ThrfsTer8
ENST00000642261.1:c.210_217dup
ENST00000642617.1:c.2143_2150dup	ENSP00000493773.1:p.Leu718ThrfsTer8
ENST00000642627.1:c.2128_2135dup	ENSP00000496772.1:p.Leu713ThrfsTer8
ENST00000642811.1:c.*1916_*1923dup	ENSP00000495554.1:n.*1916_*1923dup
ENST00000643072.1:c.1993_2000dup	ENSP00000496691.1:p.Leu668ThrfsTer8
ENST00000643275.1:c.620_627dup	ENSP00000495598.1:n.620_627dup
ENST00000643583.1:c.2131_2138dup	ENSP00000494685.1:p.Leu714ThrfsTer8
ENST00000643625.1:c.85+698_85+705dup	ENSP00000495546.1:n.85+698_85+705dup
ENST00000643875.1:c.2146_2153dup	ENSP00000495158.1:p.Leu719ThrfsTer8
ENST00000644097.1:c.2143_2150dup	ENSP00000494682.1:p.Leu718ThrfsTer8
ENST00000644184.1:c.883_890dup	ENSP00000495428.1:p.Leu298ThrfsTer8
ENST00000644255.1:c.*1913_*1920dup	ENSP00000493608.1:n.*1913_*1920dup
ENST00000644319.1:n.2521_2528dup
ENST00000644882.1:n.1101_1108dup
ENST00000645901.1:n.2997_3004dup
ENST00000646391.1:c.*1916_*1923dup	ENSP00000494104.1:n.*1916_*1923dup
ENST00000646625.1:c.2146_2153dup	ENSP00000496263.1:p.Leu719ThrfsTer8
ENST00000647262.1:n.1111_1118dup
ENST00000647279.1:c.*1385_*1392dup	ENSP00000494502.1:n.*1385_*1392dup
ENST00000647506.1:n.3022_3029dup
ENST00000647534.1:n.1210_1217dup
ENST00000298552.7:c.2146_2153dup	ENSP00000298552.3:p.Leu719ThrfsTer8
ENST00000440111.6:c.2146_2153dup	ENSP00000394524.2:p.Leu719ThrfsTer8
ENST00000545250.5:c.1993_2000dup	ENSP00000444017.1:p.Leu668ThrfsTer8
NM_000368.4:c.2146_2153dup , LRG_486t1:c.2146_2153dup	NP_000359.1:p.Leu719ThrfsTer8
NM_001162426.1:c.2143_2150dup	NP_001155898.1:p.Leu718ThrfsTer8
NM_001162427.1:c.1993_2000dup	NP_001155899.1:p.Leu668ThrfsTer8
XM_005272211.1:c.2146_2153dup	XP_005272268.1:p.Leu719ThrfsTer8
XM_006717271.1:c.2146_2153dup	XP_006717334.1:p.Leu719ThrfsTer8
XM_011518979.1:c.2146_2153dup	XP_011517281.1:p.Leu719ThrfsTer8
NM_001362177.1:c.1783_1790dup	NP_001349106.1:p.Leu598ThrfsTer8
XM_011518979.2:c.2146_2153dup	XP_011517281.1:p.Leu719ThrfsTer8
XM_017015096.1:c.2146_2153dup	XP_016870585.1:p.Leu719ThrfsTer8
XM_017015097.1:c.2146_2153dup	XP_016870586.1:p.Leu719ThrfsTer8
XM_017015098.1:c.2143_2150dup	XP_016870587.1:p.Leu718ThrfsTer8
XM_017015100.1:c.1783_1790dup	XP_016870589.1:p.Leu598ThrfsTer8
XM_017015101.1:c.1780_1787dup	XP_016870590.1:p.Leu597ThrfsTer8
NM_000368.5:c.2146_2153dup MANE Select	NP_000359.1:p.Leu719ThrfsTer8
NM_001162426.2:c.2143_2150dup	NP_001155898.1:p.Leu718ThrfsTer8
NM_001162427.2:c.1993_2000dup	NP_001155899.1:p.Leu668ThrfsTer8
NM_001362177.2:c.1783_1790dup	NP_001349106.1:p.Leu598ThrfsTer8