Canonical Allele Identifier: CA008481
Gene: TSC1 HGNC NCBI

Linked Data

dbSNP Id: rs118203477
MyVariant Identifiers: chr9:g.135786880_135786881del (hg19) chr9:g.132911493_132911494del (hg38)
PubMed: PMID:9242607 PMID:9924605 PMID:10363127 PMID:17304050
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132911495_132911496del , CM000671.2:g.132911495_132911496del GRCh38
NC_000009.11:g.135786882_135786883del , CM000671.1:g.135786882_135786883del GRCh37
NC_000009.10:g.134776703_134776704del NCBI36
NG_012386.1:g.38140_38141del , LRG_486:g.38140_38141del

Transcript Alleles

HGVS Amino-acid change
ENST00000475903.7:c.988_989del ENSP00000496126.2:p.Leu330GlufsTer10
ENST00000490179.4:c.988_989del ENSP00000495533.2:p.Leu330GlufsTer10
ENST00000642261.2:c.988_989del ENSP00000494743.2:p.Leu330GlufsTer10
ENST00000643275.2:c.988_989del ENSP00000495598.2:p.Leu330GlufsTer10
ENST00000643362.2:c.835_836del ENSP00000496398.2:p.Leu279GlufsTer10
ENST00000643625.2:c.988_989del ENSP00000495546.2:p.Leu330GlufsTer10
ENST00000643691.2:c.625_626del ENSP00000494916.2:p.Leu209GlufsTer10
ENST00000644184.2:c.988_989del ENSP00000495428.2:p.Leu330GlufsTer10
ENST00000645129.2:c.835_836del ENSP00000493639.2:p.Leu279GlufsTer10
ENST00000646440.2:c.988_989del ENSP00000495830.2:p.Leu330GlufsTer10
ENST00000647078.2:c.988_989del ENSP00000496066.1:p.Leu330GlufsTer10
ENST00000298552.9:c.988_989del MANE Select ENSP00000298552.3:p.Leu330GlufsTer10
ENST00000403810.6:c.988_989del ENSP00000386093.1:p.Leu330GlufsTer10
ENST00000493467.6:n.262_263del
ENST00000642344.1:c.*729_*730del ENSP00000494847.1:n.*729_*730del
ENST00000642617.1:c.988_989del ENSP00000493773.1:p.Leu330GlufsTer10
ENST00000642627.1:c.988_989del ENSP00000496772.1:p.Leu330GlufsTer10
ENST00000642646.1:c.988_989del ENSP00000496292.1:p.Leu330GlufsTer10
ENST00000642745.1:c.988_989del ENSP00000493963.1:p.Leu330GlufsTer10
ENST00000642811.1:c.*758_*759del ENSP00000495554.1:n.*758_*759del
ENST00000642854.1:c.*773_*774del ENSP00000494639.1:n.*773_*774del
ENST00000643072.1:c.835_836del ENSP00000496691.1:p.Leu279GlufsTer10
ENST00000643362.1:c.835_836del ENSP00000496398.1:p.Leu279GlufsTer10
ENST00000643583.1:c.988_989del ENSP00000494685.1:p.Leu330GlufsTer10
ENST00000643875.1:c.988_989del ENSP00000495158.1:p.Leu330GlufsTer10
ENST00000644097.1:c.988_989del ENSP00000494682.1:p.Leu330GlufsTer10
ENST00000644255.1:c.*758_*759del ENSP00000493608.1:n.*758_*759del
ENST00000644319.1:n.715_716del
ENST00000644997.1:c.*645_*646del ENSP00000495654.1:n.*645_*646del
ENST00000645129.1:c.835_836del ENSP00000493639.1:p.Leu279GlufsTer10
ENST00000645150.1:c.988_989del ENSP00000494365.1:p.Leu330GlufsTer10
ENST00000645901.1:n.1191_1192del
ENST00000646391.1:c.*758_*759del ENSP00000494104.1:n.*758_*759del
ENST00000646625.1:c.988_989del ENSP00000496263.1:p.Leu330GlufsTer10
ENST00000647078.1:c.988_989del ENSP00000496066.1:p.Leu330GlufsTer10
ENST00000647279.1:c.*227_*228del ENSP00000494502.1:n.*227_*228del
ENST00000647462.1:c.988_989del ENSP00000495821.1:p.Leu330GlufsTer10
ENST00000647506.1:n.1216_1217del
ENST00000298552.7:c.988_989del ENSP00000298552.3:p.Leu330GlufsTer10
ENST00000403810.5:c.988_989del ENSP00000386093.1:p.Leu330GlufsTer10
ENST00000440111.6:c.988_989del ENSP00000394524.2:p.Leu330GlufsTer10
ENST00000493467.5:n.1184_1185del
ENST00000545250.5:c.835_836del ENSP00000444017.1:p.Leu279GlufsTer10
NM_000368.4:c.988_989del , LRG_486t1:c.988_989del NP_000359.1:p.Leu330GlufsTer10
NM_001162426.1:c.988_989del NP_001155898.1:p.Leu330GlufsTer10
NM_001162427.1:c.835_836del NP_001155899.1:p.Leu279GlufsTer10
XM_005272211.1:c.988_989del XP_005272268.1:p.Leu330GlufsTer10
XM_006717271.1:c.988_989del XP_006717334.1:p.Leu330GlufsTer10
XM_006717272.2:c.988_989del XP_006717335.1:p.Leu330GlufsTer10
XM_011518979.1:c.988_989del XP_011517281.1:p.Leu330GlufsTer10
NM_001362177.1:c.625_626del NP_001349106.1:p.Leu209GlufsTer10
XM_011518979.2:c.988_989del XP_011517281.1:p.Leu330GlufsTer10
XM_017015096.1:c.988_989del XP_016870585.1:p.Leu330GlufsTer10
XM_017015097.1:c.988_989del XP_016870586.1:p.Leu330GlufsTer10
XM_017015098.1:c.988_989del XP_016870587.1:p.Leu330GlufsTer10
XM_017015100.1:c.625_626del XP_016870589.1:p.Leu209GlufsTer10
XM_017015101.1:c.625_626del XP_016870590.1:p.Leu209GlufsTer10
NM_000368.5:c.988_989del MANE Select NP_000359.1:p.Leu330GlufsTer10
NM_001162426.2:c.988_989del NP_001155898.1:p.Leu330GlufsTer10
NM_001162427.2:c.835_836del NP_001155899.1:p.Leu279GlufsTer10
NM_001362177.2:c.625_626del NP_001349106.1:p.Leu209GlufsTer10
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