Canonical Allele Identifier: CA004289

Gene: TSC1

Linked Data

• ClinVar Variation Id: 64799
• ClinVar RCV Id: RCV000054988
• dbSNP Id: rs397514849
• MyVariant Identifiers: chr9:g.135786853_135786862del (hg19) ; chr9:g.132911466_132911475del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132911468_132911477del , CM000671.2:g.132911468_132911477del	GRCh38
NC_000009.11:g.135786855_135786864del , CM000671.1:g.135786855_135786864del	GRCh37
NC_000009.10:g.134776676_134776685del	NCBI36
NG_012386.1:g.38159_38168del , LRG_486:g.38159_38168del

Transcript Alleles

HGVS	Amino-acid change
ENST00000475903.7:c.1007_1016del	ENSP00000496126.2:p.Arg336LeufsTer17
ENST00000490179.4:c.1007_1016del	ENSP00000495533.2:p.Arg336LeufsTer17
ENST00000642261.2:c.1007_1016del	ENSP00000494743.2:p.Arg336LeufsTer17
ENST00000643275.2:c.1007_1016del	ENSP00000495598.2:p.Arg336LeufsTer17
ENST00000643362.2:c.854_863del	ENSP00000496398.2:p.Arg285LeufsTer23
ENST00000643625.2:c.1007_1016del	ENSP00000495546.2:p.Arg336LeufsTer17
ENST00000643691.2:c.644_653del	ENSP00000494916.2:p.Arg215LeufsTer17
ENST00000644184.2:c.1007_1016del	ENSP00000495428.2:p.Arg336LeufsTer17
ENST00000645129.2:c.854_863del	ENSP00000493639.2:p.Arg285LeufsTer17
ENST00000646440.2:c.1007_1016del	ENSP00000495830.2:p.Arg336LeufsTer17
ENST00000647078.2:c.1007_1016del	ENSP00000496066.1:p.Arg336LeufsTer10
ENST00000298552.9:c.1007_1016del MANE Select	ENSP00000298552.3:p.Arg336LeufsTer17
ENST00000403810.6:c.1007_1016del	ENSP00000386093.1:p.Arg336LeufsTer10
ENST00000493467.6:n.281_290del
ENST00000642344.1:c.*748_*757del	ENSP00000494847.1:n.*748_*757del
ENST00000642617.1:c.1007_1016del	ENSP00000493773.1:p.Arg336LeufsTer17
ENST00000642627.1:c.1007_1016del	ENSP00000496772.1:p.Arg336LeufsTer17
ENST00000642646.1:c.1007_1016del	ENSP00000496292.1:p.Arg336LeufsTer17
ENST00000642745.1:c.1007_1016del	ENSP00000493963.1:p.Arg336LeufsTer17
ENST00000642811.1:c.*777_*786del	ENSP00000495554.1:n.*777_*786del
ENST00000642854.1:c.*792_*801del	ENSP00000494639.1:n.*792_*801del
ENST00000643072.1:c.854_863del	ENSP00000496691.1:p.Arg285LeufsTer17
ENST00000643362.1:c.854_863del	ENSP00000496398.1:p.Arg285LeufsTer23
ENST00000643583.1:c.1007_1016del	ENSP00000494685.1:p.Arg336LeufsTer17
ENST00000643875.1:c.1007_1016del	ENSP00000495158.1:p.Arg336LeufsTer17
ENST00000644097.1:c.1007_1016del	ENSP00000494682.1:p.Arg336LeufsTer17
ENST00000644255.1:c.*777_*786del	ENSP00000493608.1:n.*777_*786del
ENST00000644319.1:n.734_743del
ENST00000644997.1:c.*664_*673del	ENSP00000495654.1:n.*664_*673del
ENST00000645129.1:c.854_863del	ENSP00000493639.1:p.Arg285LeufsTer17
ENST00000645150.1:c.1007_1016del	ENSP00000494365.1:p.Arg336LeufsTer17
ENST00000645901.1:n.1210_1219del
ENST00000646391.1:c.*777_*786del	ENSP00000494104.1:n.*777_*786del
ENST00000646625.1:c.1007_1016del	ENSP00000496263.1:p.Arg336LeufsTer17
ENST00000647078.1:c.1007_1016del	ENSP00000496066.1:p.Arg336LeufsTer10
ENST00000647279.1:c.*246_*255del	ENSP00000494502.1:n.*246_*255del
ENST00000647462.1:c.1007_1016del	ENSP00000495821.1:p.Arg336LeufsTer17
ENST00000647506.1:n.1235_1244del
ENST00000298552.7:c.1007_1016del	ENSP00000298552.3:p.Arg336LeufsTer17
ENST00000403810.5:c.1007_1016del	ENSP00000386093.1:p.Arg336LeufsTer10
ENST00000440111.6:c.1007_1016del	ENSP00000394524.2:p.Arg336LeufsTer17
ENST00000493467.5:n.1203_1212del
ENST00000545250.5:c.854_863del	ENSP00000444017.1:p.Arg285LeufsTer17
NM_000368.4:c.1007_1016del , LRG_486t1:c.1007_1016del	NP_000359.1:p.Arg336LeufsTer17
NM_001162426.1:c.1007_1016del	NP_001155898.1:p.Arg336LeufsTer17
NM_001162427.1:c.854_863del	NP_001155899.1:p.Arg285LeufsTer17
XM_005272211.1:c.1007_1016del	XP_005272268.1:p.Arg336LeufsTer17
XM_006717271.1:c.1007_1016del	XP_006717334.1:p.Arg336LeufsTer17
XM_006717272.2:c.1007_1016del	XP_006717335.1:p.Arg336LeufsTer17
XM_011518979.1:c.1007_1016del	XP_011517281.1:p.Arg336LeufsTer17
NM_001362177.1:c.644_653del	NP_001349106.1:p.Arg215LeufsTer17
XM_011518979.2:c.1007_1016del	XP_011517281.1:p.Arg336LeufsTer17
XM_017015096.1:c.1007_1016del	XP_016870585.1:p.Arg336LeufsTer17
XM_017015097.1:c.1007_1016del	XP_016870586.1:p.Arg336LeufsTer17
XM_017015098.1:c.1007_1016del	XP_016870587.1:p.Arg336LeufsTer17
XM_017015100.1:c.644_653del	XP_016870589.1:p.Arg215LeufsTer17
XM_017015101.1:c.644_653del	XP_016870590.1:p.Arg215LeufsTer17
NM_000368.5:c.1007_1016del MANE Select	NP_000359.1:p.Arg336LeufsTer17
NM_001162426.2:c.1007_1016del	NP_001155898.1:p.Arg336LeufsTer17
NM_001162427.2:c.854_863del	NP_001155899.1:p.Arg285LeufsTer17
NM_001362177.2:c.644_653del	NP_001349106.1:p.Arg215LeufsTer17