Canonical Allele Identifier: CA2580080128
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1793981
ClinVar RCV Id: RCV002426422

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132900713_132900717dup , CM000671.2:g.132900713_132900717dup GRCh38
NC_000009.11:g.135776100_135776104dup , CM000671.1:g.135776100_135776104dup GRCh37
NC_000009.10:g.134765921_134765925dup NCBI36
NG_012386.1:g.48918_48922dup , LRG_486:g.48918_48922dup

Transcript Alleles

HGVS Amino-acid change
ENST00000475903.7:c.2621_2622+3dup
ENST00000490179.4:c.2624_2625+3dup
ENST00000642261.2:c.*403_*404+3dup
ENST00000643275.2:c.*564_*565+3dup
ENST00000643362.2:c.2237_2238+3dup
ENST00000643625.2:c.*366_*367+3dup
ENST00000643691.2:c.2261_2262+3dup
ENST00000644184.2:c.2582_2583+3dup
ENST00000645129.2:c.2468_2469+3dup
ENST00000646440.2:c.2624_2625+3dup
ENST00000298552.9:c.2624_2625+3dup
ENST00000642261.1:c.684_685+3dup
ENST00000642617.1:c.2621_2622+3dup
ENST00000642627.1:c.2606_2607+3dup
ENST00000642811.1:c.*2394_*2395+3dup
ENST00000643072.1:c.2471_2472+3dup
ENST00000643275.1:c.1098_1099+3dup
ENST00000643583.1:c.2609_2610+3dup
ENST00000643625.1:c.501_502+3dup
ENST00000643875.1:c.2624_2625+3dup
ENST00000644097.1:c.2621_2622+3dup
ENST00000644184.1:c.1319_1320+3dup
ENST00000644255.1:c.*2391_*2392+3dup
ENST00000644319.1:n.2999_3000+3dup
ENST00000644786.1:n.283_284+3dup
ENST00000644882.1:n.1537_1538+3dup
ENST00000645901.1:n.3475_3476+3dup
ENST00000646391.1:c.*2394_*2395+3dup
ENST00000646625.1:c.2624_2625+3dup
ENST00000647262.1:n.1589_1590+3dup
ENST00000647279.1:c.*1863_*1864+3dup
ENST00000647506.1:n.3500_3504dup
ENST00000647534.1:n.1688_1689+3dup
ENST00000298552.7:c.2624_2625+3dup
ENST00000440111.6:c.2624_2625+3dup
ENST00000545250.5:c.2471_2472+3dup
NM_000368.4:c.2624_2625+3dup , LRG_486t1:c.2624_2625+3dup
NM_001162426.1:c.2621_2622+3dup
NM_001162427.1:c.2471_2472+3dup
XM_005272211.1:c.2624_2625+3dup
XM_006717271.1:c.2624_2625+3dup
XM_011518979.1:c.2624_2625+3dup
NM_001362177.1:c.2261_2262+3dup
XM_011518979.2:c.2624_2625+3dup
XM_017015096.1:c.2624_2625+3dup
XM_017015097.1:c.2624_2625+3dup
XM_017015098.1:c.2621_2622+3dup
XM_017015100.1:c.2261_2262+3dup
XM_017015101.1:c.2258_2259+3dup
NM_000368.5:c.2624_2625+3dup
NM_001162426.2:c.2621_2622+3dup
NM_001162427.2:c.2471_2472+3dup
NM_001362177.2:c.2261_2262+3dup