Canonical Allele Identifier: CA262309

Gene: TSC1

Linked Data

• ClinVar Variation Id: 48988
• ClinVar RCV Id: RCV001852865 ; RCV000042239
• dbSNP Id: rs118203724
• MyVariant Identifiers: chr9:g.135772951_135772952dupTT (hg19) ; chr9:g.135772950_135772951insTT (hg19) ; chr9:g.132897564_132897565dupTT (hg38) ; chr9:g.132897563_132897564insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132897569_132897570dup , CM000671.2:g.132897569_132897570dup	GRCh38
NC_000009.11:g.135772956_135772957dup , CM000671.1:g.135772956_135772957dup	GRCh37
NC_000009.10:g.134762777_134762778dup	NCBI36
NG_012386.1:g.52069_52070dup , LRG_486:g.52069_52070dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2668_2669dup	ENSP00000496126.2:p.Asn890LysfsTer?
ENST00000490179.4:c.2671_2672dup	ENSP00000495533.2:p.Asn891LysfsTer?
ENST00000642261.2:c.*450_*451dup	ENSP00000494743.2:n.*450_*451dup
ENST00000643275.2:c.*611_*612dup	ENSP00000495598.2:n.*611_*612dup
ENST00000643362.2:c.2284_2285dup	ENSP00000496398.2:p.Asn762LysfsTer?
ENST00000643625.2:c.*413_*414dup	ENSP00000495546.2:n.*413_*414dup
ENST00000643691.2:c.2308_2309dup	ENSP00000494916.2:p.Asn770LysfsTer?
ENST00000644184.2:c.2629_2630dup	ENSP00000495428.2:p.Asn877LysfsTer?
ENST00000645129.2:c.2515_2516dup	ENSP00000493639.2:p.Asn839LysfsTer?
ENST00000646440.2:c.2671_2672dup	ENSP00000495830.2:p.Asn891LysfsTer?
ENST00000298552.9:c.2671_2672dup MANE Select	ENSP00000298552.3:p.Asn891LysfsTer?
ENST00000642261.1:c.731_732dup
ENST00000642617.1:c.2668_2669dup	ENSP00000493773.1:p.Asn890LysfsTer?
ENST00000642627.1:c.2653_2654dup	ENSP00000496772.1:p.Asn885LysfsTer?
ENST00000642811.1:c.*2441_*2442dup	ENSP00000495554.1:n.*2441_*2442dup
ENST00000643072.1:c.2518_2519dup	ENSP00000496691.1:p.Asn840LysfsTer?
ENST00000643275.1:c.1145_1146dup	ENSP00000495598.1:n.1145_1146dup
ENST00000643583.1:c.2656_2657dup	ENSP00000494685.1:p.Asn886LysfsTer?
ENST00000643625.1:c.548_549dup	ENSP00000495546.1:n.548_549dup
ENST00000643875.1:c.2671_2672dup	ENSP00000495158.1:p.Asn891LysfsTer?
ENST00000644097.1:c.2668_2669dup	ENSP00000494682.1:p.Asn890LysfsTer?
ENST00000644184.1:c.1366_1367dup	ENSP00000495428.1:p.Asn456LysfsTer?
ENST00000644255.1:c.*2438_*2439dup	ENSP00000493608.1:n.*2438_*2439dup
ENST00000644319.1:n.3046_3047dup
ENST00000644786.1:n.330_331dup
ENST00000644882.1:n.1584_1585dup
ENST00000645901.1:n.3522_3523dup
ENST00000646391.1:c.*2441_*2442dup	ENSP00000494104.1:n.*2441_*2442dup
ENST00000646625.1:c.2671_2672dup	ENSP00000496263.1:p.Asn891LysfsTer?
ENST00000647262.1:n.1636_1637dup
ENST00000647279.1:c.*1910_*1911dup	ENSP00000494502.1:n.*1910_*1911dup
ENST00000647534.1:n.1735_1736dup
ENST00000298552.7:c.2671_2672dup	ENSP00000298552.3:p.Asn891LysfsTer?
ENST00000440111.6:c.2671_2672dup	ENSP00000394524.2:p.Asn891LysfsTer?
ENST00000545250.5:c.2518_2519dup	ENSP00000444017.1:p.Asn840LysfsTer?
NM_000368.4:c.2671_2672dup , LRG_486t1:c.2671_2672dup	NP_000359.1:p.Asn891LysfsTer?
NM_001162426.1:c.2668_2669dup	NP_001155898.1:p.Asn890LysfsTer?
NM_001162427.1:c.2518_2519dup	NP_001155899.1:p.Asn840LysfsTer?
XM_005272211.1:c.2671_2672dup	XP_005272268.1:p.Asn891LysfsTer?
XM_006717271.1:c.2671_2672dup	XP_006717334.1:p.Asn891LysfsTer?
XM_011518979.1:c.2671_2672dup	XP_011517281.1:p.Asn891LysfsTer?
NM_001362177.1:c.2308_2309dup	NP_001349106.1:p.Asn770LysfsTer?
XM_011518979.2:c.2671_2672dup	XP_011517281.1:p.Asn891LysfsTer?
XM_017015096.1:c.2671_2672dup	XP_016870585.1:p.Asn891LysfsTer?
XM_017015097.1:c.2671_2672dup	XP_016870586.1:p.Asn891LysfsTer?
XM_017015098.1:c.2668_2669dup	XP_016870587.1:p.Asn890LysfsTer?
XM_017015100.1:c.2308_2309dup	XP_016870589.1:p.Asn770LysfsTer?
XM_017015101.1:c.2305_2306dup	XP_016870590.1:p.Asn769LysfsTer?
NM_000368.5:c.2671_2672dup MANE Select	NP_000359.1:p.Asn891LysfsTer?
NM_001162426.2:c.2668_2669dup	NP_001155898.1:p.Asn890LysfsTer?
NM_001162427.2:c.2518_2519dup	NP_001155899.1:p.Asn840LysfsTer?
NM_001362177.2:c.2308_2309dup	NP_001349106.1:p.Asn770LysfsTer?