Canonical Allele Identifier: CA008496
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 49134
ClinVar RCV Id: RCV000042389 RCV000201052
dbSNP Id: rs118203479
MyVariant Identifiers: chr9:g.135786879_135786880del (hg19) chr9:g.132911492_132911493del (hg38)
PubMed: PMID:17304050
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132911492_132911493del , CM000671.2:g.132911492_132911493del GRCh38
NC_000009.11:g.135786879_135786880del , CM000671.1:g.135786879_135786880del GRCh37
NC_000009.10:g.134776700_134776701del NCBI36
NG_012386.1:g.38141_38142del , LRG_486:g.38141_38142del

Transcript Alleles

HGVS Amino-acid change
ENST00000475903.7:c.989_990del ENSP00000496126.2:p.Leu330GlnfsTer10
ENST00000490179.4:c.989_990del ENSP00000495533.2:p.Leu330GlnfsTer10
ENST00000642261.2:c.989_990del ENSP00000494743.2:p.Leu330GlnfsTer10
ENST00000643275.2:c.989_990del ENSP00000495598.2:p.Leu330GlnfsTer10
ENST00000643362.2:c.836_837del ENSP00000496398.2:p.Leu279GlnfsTer10
ENST00000643625.2:c.989_990del ENSP00000495546.2:p.Leu330GlnfsTer10
ENST00000643691.2:c.626_627del ENSP00000494916.2:p.Leu209GlnfsTer10
ENST00000644184.2:c.989_990del ENSP00000495428.2:p.Leu330GlnfsTer10
ENST00000645129.2:c.836_837del ENSP00000493639.2:p.Leu279GlnfsTer10
ENST00000646440.2:c.989_990del ENSP00000495830.2:p.Leu330GlnfsTer10
ENST00000647078.2:c.989_990del ENSP00000496066.1:p.Leu330GlnfsTer10
ENST00000298552.9:c.989_990del MANE Select ENSP00000298552.3:p.Leu330GlnfsTer10
ENST00000403810.6:c.989_990del ENSP00000386093.1:p.Leu330GlnfsTer10
ENST00000493467.6:n.263_264del
ENST00000642344.1:c.*730_*731del ENSP00000494847.1:n.*730_*731del
ENST00000642617.1:c.989_990del ENSP00000493773.1:p.Leu330GlnfsTer10
ENST00000642627.1:c.989_990del ENSP00000496772.1:p.Leu330GlnfsTer10
ENST00000642646.1:c.989_990del ENSP00000496292.1:p.Leu330GlnfsTer10
ENST00000642745.1:c.989_990del ENSP00000493963.1:p.Leu330GlnfsTer10
ENST00000642811.1:c.*759_*760del ENSP00000495554.1:n.*759_*760del
ENST00000642854.1:c.*774_*775del ENSP00000494639.1:n.*774_*775del
ENST00000643072.1:c.836_837del ENSP00000496691.1:p.Leu279GlnfsTer10
ENST00000643362.1:c.836_837del ENSP00000496398.1:p.Leu279GlnfsTer10
ENST00000643583.1:c.989_990del ENSP00000494685.1:p.Leu330GlnfsTer10
ENST00000643875.1:c.989_990del ENSP00000495158.1:p.Leu330GlnfsTer10
ENST00000644097.1:c.989_990del ENSP00000494682.1:p.Leu330GlnfsTer10
ENST00000644255.1:c.*759_*760del ENSP00000493608.1:n.*759_*760del
ENST00000644319.1:n.716_717del
ENST00000644997.1:c.*646_*647del ENSP00000495654.1:n.*646_*647del
ENST00000645129.1:c.836_837del ENSP00000493639.1:p.Leu279GlnfsTer10
ENST00000645150.1:c.989_990del ENSP00000494365.1:p.Leu330GlnfsTer10
ENST00000645901.1:n.1192_1193del
ENST00000646391.1:c.*759_*760del ENSP00000494104.1:n.*759_*760del
ENST00000646625.1:c.989_990del ENSP00000496263.1:p.Leu330GlnfsTer10
ENST00000647078.1:c.989_990del ENSP00000496066.1:p.Leu330GlnfsTer10
ENST00000647279.1:c.*228_*229del ENSP00000494502.1:n.*228_*229del
ENST00000647462.1:c.989_990del ENSP00000495821.1:p.Leu330GlnfsTer10
ENST00000647506.1:n.1217_1218del
ENST00000298552.7:c.989_990del ENSP00000298552.3:p.Leu330GlnfsTer10
ENST00000403810.5:c.989_990del ENSP00000386093.1:p.Leu330GlnfsTer10
ENST00000440111.6:c.989_990del ENSP00000394524.2:p.Leu330GlnfsTer10
ENST00000493467.5:n.1185_1186del
ENST00000545250.5:c.836_837del ENSP00000444017.1:p.Leu279GlnfsTer10
NM_000368.4:c.989_990del , LRG_486t1:c.989_990del NP_000359.1:p.Leu330GlnfsTer10
NM_001162426.1:c.989_990del NP_001155898.1:p.Leu330GlnfsTer10
NM_001162427.1:c.836_837del NP_001155899.1:p.Leu279GlnfsTer10
XM_005272211.1:c.989_990del XP_005272268.1:p.Leu330GlnfsTer10
XM_006717271.1:c.989_990del XP_006717334.1:p.Leu330GlnfsTer10
XM_006717272.2:c.989_990del XP_006717335.1:p.Leu330GlnfsTer10
XM_011518979.1:c.989_990del XP_011517281.1:p.Leu330GlnfsTer10
NM_001362177.1:c.626_627del NP_001349106.1:p.Leu209GlnfsTer10
XM_011518979.2:c.989_990del XP_011517281.1:p.Leu330GlnfsTer10
XM_017015096.1:c.989_990del XP_016870585.1:p.Leu330GlnfsTer10
XM_017015097.1:c.989_990del XP_016870586.1:p.Leu330GlnfsTer10
XM_017015098.1:c.989_990del XP_016870587.1:p.Leu330GlnfsTer10
XM_017015100.1:c.626_627del XP_016870589.1:p.Leu209GlnfsTer10
XM_017015101.1:c.626_627del XP_016870590.1:p.Leu209GlnfsTer10
NM_000368.5:c.989_990del MANE Select NP_000359.1:p.Leu330GlnfsTer10
NM_001162426.2:c.989_990del NP_001155898.1:p.Leu330GlnfsTer10
NM_001162427.2:c.836_837del NP_001155899.1:p.Leu279GlnfsTer10
NM_001362177.2:c.626_627del NP_001349106.1:p.Leu209GlnfsTer10
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