Canonical Allele Identifier: CA860662907

Gene: TSC1

Linked Data

• dbSNP Id: rs1218268100
• MyVariant Identifiers: chr9:g.135771168del (hg19) ; chr9:g.132895781del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132895782del , CM000671.2:g.132895782del	GRCh38
NC_000009.11:g.135771169del , CM000671.1:g.135771169del	GRCh37
NC_000009.10:g.134760990del	NCBI36
NG_012386.1:g.53853del , LRG_486:g.53853del

Transcript Alleles

HGVS	Amino-acid change
ENST00000475903.7:c.*454del	ENSP00000496126.2:n.*454del
ENST00000490179.4:c.*454del	ENSP00000495533.2:n.*454del
ENST00000642261.2:c.*1805del	ENSP00000494743.2:n.*1805del
ENST00000643275.2:c.*1889del	ENSP00000495598.2:n.*1889del
ENST00000643362.2:c.*454del	ENSP00000496398.2:n.*454del
ENST00000643625.2:c.*1691del	ENSP00000495546.2:n.*1691del
ENST00000643691.2:c.*454del	ENSP00000494916.2:n.*454del
ENST00000644184.2:c.*454del	ENSP00000495428.2:n.*454del
ENST00000645129.2:c.*454del	ENSP00000493639.2:n.*454del
ENST00000646440.2:c.*454del	ENSP00000495830.2:n.*454del
ENST00000298552.9:c.*454del MANE Select	ENSP00000298552.3:n.*454del
ENST00000642627.1:c.*454del	ENSP00000496772.1:n.*454del
ENST00000642811.1:c.*3719del	ENSP00000495554.1:n.*3719del
ENST00000643625.1:c.1826del	ENSP00000495546.1:n.1826del
ENST00000643875.1:c.*454del	ENSP00000495158.1:n.*454del
ENST00000644097.1:c.*454del	ENSP00000494682.1:n.*454del
ENST00000644184.1:c.2644del	ENSP00000495428.1:n.2644del
ENST00000644786.1:n.1608del
ENST00000644882.1:n.2857del
ENST00000645901.1:n.4800del
ENST00000646625.1:c.*454del	ENSP00000496263.1:n.*454del
ENST00000647262.1:n.2914del
ENST00000647534.1:n.3013del
ENST00000298552.7:c.*454del	ENSP00000298552.3:n.*454del
ENST00000440111.6:c.*454del	ENSP00000394524.2:n.*454del
ENST00000545250.5:c.*454del	ENSP00000444017.1:n.*454del
NM_000368.4:c.*454del , LRG_486t1:c.*454del	NP_000359.1:n.*454del
NM_001162426.1:c.*454del	NP_001155898.1:n.*454del
NM_001162427.1:c.*454del	NP_001155899.1:n.*454del
XM_005272211.1:c.*454del	XP_005272268.1:n.*454del
XM_006717271.1:c.*454del	XP_006717334.1:n.*454del
XM_011518979.1:c.*454del	XP_011517281.1:n.*454del
NM_001362177.1:c.*454del	NP_001349106.1:n.*454del
XM_011518979.2:c.*454del	XP_011517281.1:n.*454del
XM_017015096.1:c.*454del	XP_016870585.1:n.*454del
XM_017015097.1:c.*454del	XP_016870586.1:n.*454del
XM_017015098.1:c.*454del	XP_016870587.1:n.*454del
XM_017015100.1:c.*454del	XP_016870589.1:n.*454del
XM_017015101.1:c.*454del	XP_016870590.1:n.*454del
NM_000368.5:c.*454del MANE Select	NP_000359.1:n.*454del
NM_001162426.2:c.*454del	NP_001155898.1:n.*454del
NM_001162427.2:c.*454del	NP_001155899.1:n.*454del
NM_001362177.2:c.*454del	NP_001349106.1:n.*454del