Canonical Allele Identifier: CA2739264830

Gene: TSC1

Linked Data

• ClinVar Variation Id: 2827267
• ClinVar RCV Id: RCV003613873

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132905474_132906041del , CM000671.2:g.132905474_132906041del	GRCh38
NC_000009.11:g.135780861_135781428del , CM000671.1:g.135780861_135781428del	GRCh37
NC_000009.10:g.134770682_134771249del	NCBI36
NG_012386.1:g.43594_44161del , LRG_486:g.43594_44161del

Transcript Alleles

HGVS	Amino-acid change
ENST00000475903.7:c.1535_1994+108del
ENST00000490179.4:c.1538_1997+108del
ENST00000642261.2:c.1538_1997+108del
ENST00000643275.2:c.1538_1997+108del
ENST00000643362.2:c.1151_1610+108del
ENST00000643625.2:c.1538_1997+108del
ENST00000643691.2:c.1175_1634+108del
ENST00000644184.2:c.1538_1997+108del
ENST00000645129.2:c.1382_1841+108del
ENST00000646440.2:c.1538_1997+108del
ENST00000298552.9:c.1538_1997+108del
ENST00000642617.1:c.1535_1994+108del
ENST00000642627.1:c.1535_1994+108del
ENST00000642811.1:c.*1308_*1767+108del
ENST00000643072.1:c.1385_1844+108del
ENST00000643275.1:c.56_515+108del
ENST00000643583.1:c.1538_1997+108del
ENST00000643875.1:c.1538_1997+108del
ENST00000644097.1:c.1535_1994+108del
ENST00000644184.1:c.275_734+108del
ENST00000644255.1:c.*1305_*1764+108del
ENST00000644319.1:n.1913_2372+108del
ENST00000644882.1:n.493_952+108del
ENST00000645901.1:n.2389_2848+108del
ENST00000646391.1:c.*1308_*1767+108del
ENST00000646625.1:c.1538_1997+108del
ENST00000647262.1:n.503_962+108del
ENST00000647279.1:c.*777_*1236+108del
ENST00000647506.1:n.2414_2873+108del
ENST00000647534.1:n.602_1061+108del
ENST00000298552.7:c.1538_1997+108del
ENST00000440111.6:c.1538_1997+108del
ENST00000545250.5:c.1385_1844+108del
NM_000368.4:c.1538_1997+108del , LRG_486t1:c.1538_1997+108del
NM_001162426.1:c.1535_1994+108del
NM_001162427.1:c.1385_1844+108del
XM_005272211.1:c.1538_1997+108del
XM_006717271.1:c.1538_1997+108del
XM_006717272.2:c.1538_1997+108del
XM_011518979.1:c.1538_1997+108del
NM_001362177.1:c.1175_1634+108del
XM_011518979.2:c.1538_1997+108del
XM_017015096.1:c.1538_1997+108del
XM_017015097.1:c.1538_1997+108del
XM_017015098.1:c.1535_1994+108del
XM_017015100.1:c.1175_1634+108del
XM_017015101.1:c.1172_1631+108del
NM_000368.5:c.1538_1997+108del
NM_001162426.2:c.1535_1994+108del
NM_001162427.2:c.1385_1844+108del
NM_001362177.2:c.1175_1634+108del