Canonical Allele Identifier: CA006664

Gene: TSC1

Linked Data

• ClinVar Variation Id: 48977
• ClinVar RCV Id: RCV000042228 ; RCV000189877
• dbSNP Id: rs118203712
• MyVariant Identifiers: chr9:g.135776158del (hg19) ; chr9:g.132900771del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132900774del , CM000671.2:g.132900774del	GRCh38
NC_000009.11:g.135776161del , CM000671.1:g.135776161del	GRCh37
NC_000009.10:g.134765982del	NCBI36
NG_012386.1:g.48863del , LRG_486:g.48863del

Transcript Alleles

HGVS	Amino-acid change
ENST00000475903.7:c.2566del	ENSP00000496126.2:p.Glu856ArgfsTer21
ENST00000490179.4:c.2569del	ENSP00000495533.2:p.Glu857ArgfsTer21
ENST00000642261.2:c.*348del	ENSP00000494743.2:n.*348del
ENST00000643275.2:c.*509del	ENSP00000495598.2:n.*509del
ENST00000643362.2:c.2182del	ENSP00000496398.2:p.Glu728ArgfsTer21
ENST00000643625.2:c.*311del	ENSP00000495546.2:n.*311del
ENST00000643691.2:c.2206del	ENSP00000494916.2:p.Glu736ArgfsTer21
ENST00000644184.2:c.2527del	ENSP00000495428.2:p.Glu843ArgfsTer21
ENST00000645129.2:c.2413del	ENSP00000493639.2:p.Glu805ArgfsTer21
ENST00000646440.2:c.2569del	ENSP00000495830.2:p.Glu857ArgfsTer21
ENST00000298552.9:c.2569del MANE Select	ENSP00000298552.3:p.Glu857ArgfsTer21
ENST00000642261.1:c.629del
ENST00000642617.1:c.2566del	ENSP00000493773.1:p.Glu856ArgfsTer21
ENST00000642627.1:c.2551del	ENSP00000496772.1:p.Glu851ArgfsTer21
ENST00000642811.1:c.*2339del	ENSP00000495554.1:n.*2339del
ENST00000643072.1:c.2416del	ENSP00000496691.1:p.Glu806ArgfsTer21
ENST00000643275.1:c.1043del	ENSP00000495598.1:n.1043del
ENST00000643583.1:c.2554del	ENSP00000494685.1:p.Glu852ArgfsTer21
ENST00000643625.1:c.446del	ENSP00000495546.1:n.446del
ENST00000643875.1:c.2569del	ENSP00000495158.1:p.Glu857ArgfsTer21
ENST00000644097.1:c.2566del	ENSP00000494682.1:p.Glu856ArgfsTer21
ENST00000644184.1:c.1264del	ENSP00000495428.1:p.Glu422ArgfsTer21
ENST00000644255.1:c.*2336del	ENSP00000493608.1:n.*2336del
ENST00000644319.1:n.2944del
ENST00000644786.1:n.228del
ENST00000644882.1:n.1482del
ENST00000645901.1:n.3420del
ENST00000646391.1:c.*2339del	ENSP00000494104.1:n.*2339del
ENST00000646625.1:c.2569del	ENSP00000496263.1:p.Glu857ArgfsTer21
ENST00000647262.1:n.1534del
ENST00000647279.1:c.*1808del	ENSP00000494502.1:n.*1808del
ENST00000647506.1:n.3445del
ENST00000647534.1:n.1633del
ENST00000298552.7:c.2569del	ENSP00000298552.3:p.Glu857ArgfsTer21
ENST00000440111.6:c.2569del	ENSP00000394524.2:p.Glu857ArgfsTer21
ENST00000545250.5:c.2416del	ENSP00000444017.1:p.Glu806ArgfsTer21
NM_000368.4:c.2569del , LRG_486t1:c.2569del	NP_000359.1:p.Glu857ArgfsTer21
NM_001162426.1:c.2566del	NP_001155898.1:p.Glu856ArgfsTer21
NM_001162427.1:c.2416del	NP_001155899.1:p.Glu806ArgfsTer21
XM_005272211.1:c.2569del	XP_005272268.1:p.Glu857ArgfsTer21
XM_006717271.1:c.2569del	XP_006717334.1:p.Glu857ArgfsTer21
XM_011518979.1:c.2569del	XP_011517281.1:p.Glu857ArgfsTer21
NM_001362177.1:c.2206del	NP_001349106.1:p.Glu736ArgfsTer21
XM_011518979.2:c.2569del	XP_011517281.1:p.Glu857ArgfsTer21
XM_017015096.1:c.2569del	XP_016870585.1:p.Glu857ArgfsTer21
XM_017015097.1:c.2569del	XP_016870586.1:p.Glu857ArgfsTer21
XM_017015098.1:c.2566del	XP_016870587.1:p.Glu856ArgfsTer21
XM_017015100.1:c.2206del	XP_016870589.1:p.Glu736ArgfsTer21
XM_017015101.1:c.2203del	XP_016870590.1:p.Glu735ArgfsTer21
NM_000368.5:c.2569del MANE Select	NP_000359.1:p.Glu857ArgfsTer21
NM_001162426.2:c.2566del	NP_001155898.1:p.Glu856ArgfsTer21
NM_001162427.2:c.2416del	NP_001155899.1:p.Glu806ArgfsTer21
NM_001362177.2:c.2206del	NP_001349106.1:p.Glu736ArgfsTer21