Canonical Allele Identifier: CA006685

Gene: TSC1

Linked Data

• ClinVar Variation Id: 64820
• ClinVar RCV Id: RCV000055013 ; RCV001199391
• dbSNP Id: rs397514865
• MyVariant Identifiers: chr9:g.135776145del (hg19) ; chr9:g.132900758del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132900758del , CM000671.2:g.132900758del	GRCh38
NC_000009.11:g.135776145del , CM000671.1:g.135776145del	GRCh37
NC_000009.10:g.134765966del	NCBI36
NG_012386.1:g.48876del , LRG_486:g.48876del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2579del	ENSP00000496126.2:p.Leu860ProfsTer17
ENST00000490179.4:c.2582del	ENSP00000495533.2:p.Leu861ProfsTer17
ENST00000642261.2:c.*361del	ENSP00000494743.2:n.*361del
ENST00000643275.2:c.*522del	ENSP00000495598.2:n.*522del
ENST00000643362.2:c.2195del	ENSP00000496398.2:p.Leu732ProfsTer17
ENST00000643625.2:c.*324del	ENSP00000495546.2:n.*324del
ENST00000643691.2:c.2219del	ENSP00000494916.2:p.Leu740ProfsTer17
ENST00000644184.2:c.2540del	ENSP00000495428.2:p.Leu847ProfsTer17
ENST00000645129.2:c.2426del	ENSP00000493639.2:p.Leu809ProfsTer17
ENST00000646440.2:c.2582del	ENSP00000495830.2:p.Leu861ProfsTer17
ENST00000298552.9:c.2582del MANE Select	ENSP00000298552.3:p.Leu861ProfsTer17
ENST00000642261.1:c.642del
ENST00000642617.1:c.2579del	ENSP00000493773.1:p.Leu860ProfsTer17
ENST00000642627.1:c.2564del	ENSP00000496772.1:p.Leu855ProfsTer17
ENST00000642811.1:c.*2352del	ENSP00000495554.1:n.*2352del
ENST00000643072.1:c.2429del	ENSP00000496691.1:p.Leu810ProfsTer17
ENST00000643275.1:c.1056del	ENSP00000495598.1:n.1056del
ENST00000643583.1:c.2567del	ENSP00000494685.1:p.Leu856ProfsTer17
ENST00000643625.1:c.459del	ENSP00000495546.1:n.459del
ENST00000643875.1:c.2582del	ENSP00000495158.1:p.Leu861ProfsTer17
ENST00000644097.1:c.2579del	ENSP00000494682.1:p.Leu860ProfsTer17
ENST00000644184.1:c.1277del	ENSP00000495428.1:p.Leu426ProfsTer17
ENST00000644255.1:c.*2349del	ENSP00000493608.1:n.*2349del
ENST00000644319.1:n.2957del
ENST00000644786.1:n.241del
ENST00000644882.1:n.1495del
ENST00000645901.1:n.3433del
ENST00000646391.1:c.*2352del	ENSP00000494104.1:n.*2352del
ENST00000646625.1:c.2582del	ENSP00000496263.1:p.Leu861ProfsTer17
ENST00000647262.1:n.1547del
ENST00000647279.1:c.*1821del	ENSP00000494502.1:n.*1821del
ENST00000647506.1:n.3458del
ENST00000647534.1:n.1646del
ENST00000298552.7:c.2582del	ENSP00000298552.3:p.Leu861ProfsTer17
ENST00000440111.6:c.2582del	ENSP00000394524.2:p.Leu861ProfsTer17
ENST00000545250.5:c.2429del	ENSP00000444017.1:p.Leu810ProfsTer17
NM_000368.4:c.2582del , LRG_486t1:c.2582del	NP_000359.1:p.Leu861ProfsTer17
NM_001162426.1:c.2579del	NP_001155898.1:p.Leu860ProfsTer17
NM_001162427.1:c.2429del	NP_001155899.1:p.Leu810ProfsTer17
XM_005272211.1:c.2582del	XP_005272268.1:p.Leu861ProfsTer17
XM_006717271.1:c.2582del	XP_006717334.1:p.Leu861ProfsTer17
XM_011518979.1:c.2582del	XP_011517281.1:p.Leu861ProfsTer17
NM_001362177.1:c.2219del	NP_001349106.1:p.Leu740ProfsTer17
XM_011518979.2:c.2582del	XP_011517281.1:p.Leu861ProfsTer17
XM_017015096.1:c.2582del	XP_016870585.1:p.Leu861ProfsTer17
XM_017015097.1:c.2582del	XP_016870586.1:p.Leu861ProfsTer17
XM_017015098.1:c.2579del	XP_016870587.1:p.Leu860ProfsTer17
XM_017015100.1:c.2219del	XP_016870589.1:p.Leu740ProfsTer17
XM_017015101.1:c.2216del	XP_016870590.1:p.Leu739ProfsTer17
NM_000368.5:c.2582del MANE Select	NP_000359.1:p.Leu861ProfsTer17
NM_001162426.2:c.2579del	NP_001155898.1:p.Leu860ProfsTer17
NM_001162427.2:c.2429del	NP_001155899.1:p.Leu810ProfsTer17
NM_001362177.2:c.2219del	NP_001349106.1:p.Leu740ProfsTer17