Canonical Allele Identifier: CA006820

Gene: TSC1

Linked Data

• ClinVar Variation Id: 64718
• ClinVar RCV Id: RCV000054896
• dbSNP Id: rs397514788
• MyVariant Identifiers: chr9:g.135772965del (hg19) ; chr9:g.132897578del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132897580del , CM000671.2:g.132897580del	GRCh38
NC_000009.11:g.135772967del , CM000671.1:g.135772967del	GRCh37
NC_000009.10:g.134762788del	NCBI36
NG_012386.1:g.52056del , LRG_486:g.52056del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2655del	ENSP00000496126.2:p.Glu886SerfsTer2
ENST00000490179.4:c.2658del	ENSP00000495533.2:p.Glu887SerfsTer2
ENST00000642261.2:c.*437del	ENSP00000494743.2:n.*437del
ENST00000643275.2:c.*598del	ENSP00000495598.2:n.*598del
ENST00000643362.2:c.2271del	ENSP00000496398.2:p.Glu758SerfsTer2
ENST00000643625.2:c.*400del	ENSP00000495546.2:n.*400del
ENST00000643691.2:c.2295del	ENSP00000494916.2:p.Glu766SerfsTer2
ENST00000644184.2:c.2616del	ENSP00000495428.2:p.Glu873SerfsTer2
ENST00000645129.2:c.2502del	ENSP00000493639.2:p.Glu835SerfsTer2
ENST00000646440.2:c.2658del	ENSP00000495830.2:p.Glu887SerfsTer2
ENST00000298552.9:c.2658del MANE Select	ENSP00000298552.3:p.Glu887SerfsTer2
ENST00000642261.1:c.718del
ENST00000642617.1:c.2655del	ENSP00000493773.1:p.Glu886SerfsTer2
ENST00000642627.1:c.2640del	ENSP00000496772.1:p.Glu881SerfsTer2
ENST00000642811.1:c.*2428del	ENSP00000495554.1:n.*2428del
ENST00000643072.1:c.2505del	ENSP00000496691.1:p.Glu836SerfsTer2
ENST00000643275.1:c.1132del	ENSP00000495598.1:n.1132del
ENST00000643583.1:c.2643del	ENSP00000494685.1:p.Glu882SerfsTer2
ENST00000643625.1:c.535del	ENSP00000495546.1:n.535del
ENST00000643875.1:c.2658del	ENSP00000495158.1:p.Glu887SerfsTer2
ENST00000644097.1:c.2655del	ENSP00000494682.1:p.Glu886SerfsTer2
ENST00000644184.1:c.1353del	ENSP00000495428.1:p.Glu452SerfsTer2
ENST00000644255.1:c.*2425del	ENSP00000493608.1:n.*2425del
ENST00000644319.1:n.3033del
ENST00000644786.1:n.317del
ENST00000644882.1:n.1571del
ENST00000645901.1:n.3509del
ENST00000646391.1:c.*2428del	ENSP00000494104.1:n.*2428del
ENST00000646625.1:c.2658del	ENSP00000496263.1:p.Glu887SerfsTer2
ENST00000647262.1:n.1623del
ENST00000647279.1:c.*1897del	ENSP00000494502.1:n.*1897del
ENST00000647534.1:n.1722del
ENST00000298552.7:c.2658del	ENSP00000298552.3:p.Glu887SerfsTer2
ENST00000440111.6:c.2658del	ENSP00000394524.2:p.Glu887SerfsTer2
ENST00000545250.5:c.2505del	ENSP00000444017.1:p.Glu836SerfsTer2
NM_000368.4:c.2658del , LRG_486t1:c.2658del	NP_000359.1:p.Glu887SerfsTer2
NM_001162426.1:c.2655del	NP_001155898.1:p.Glu886SerfsTer2
NM_001162427.1:c.2505del	NP_001155899.1:p.Glu836SerfsTer2
XM_005272211.1:c.2658del	XP_005272268.1:p.Glu887SerfsTer2
XM_006717271.1:c.2658del	XP_006717334.1:p.Glu887SerfsTer2
XM_011518979.1:c.2658del	XP_011517281.1:p.Glu887SerfsTer2
NM_001362177.1:c.2295del	NP_001349106.1:p.Glu766SerfsTer2
XM_011518979.2:c.2658del	XP_011517281.1:p.Glu887SerfsTer2
XM_017015096.1:c.2658del	XP_016870585.1:p.Glu887SerfsTer2
XM_017015097.1:c.2658del	XP_016870586.1:p.Glu887SerfsTer2
XM_017015098.1:c.2655del	XP_016870587.1:p.Glu886SerfsTer2
XM_017015100.1:c.2295del	XP_016870589.1:p.Glu766SerfsTer2
XM_017015101.1:c.2292del	XP_016870590.1:p.Glu765SerfsTer2
NM_000368.5:c.2658del MANE Select	NP_000359.1:p.Glu887SerfsTer2
NM_001162426.2:c.2655del	NP_001155898.1:p.Glu886SerfsTer2
NM_001162427.2:c.2505del	NP_001155899.1:p.Glu836SerfsTer2
NM_001362177.2:c.2295del	NP_001349106.1:p.Glu766SerfsTer2