Canonical Allele Identifier: CA262182
Gene: TSC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132905885_132905907dup , CM000671.2:g.132905885_132905907dup GRCh38
NC_000009.11:g.135781272_135781294dup , CM000671.1:g.135781272_135781294dup GRCh37
NC_000009.10:g.134771093_134771115dup NCBI36
NG_012386.1:g.43736_43758dup , LRG_486:g.43736_43758dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000475903.7:c.1677_1699dup ENSP00000496126.2:p.Gly567AlafsTer?
ENST00000490179.4:c.1680_1702dup ENSP00000495533.2:p.Gly568AlafsTer?
ENST00000642261.2:c.1680_1702dup ENSP00000494743.2:p.Gly568AlafsTer?
ENST00000643275.2:c.1680_1702dup ENSP00000495598.2:p.Gly568AlafsTer?
ENST00000643362.2:c.1293_1315dup ENSP00000496398.2:p.Gly439AlafsTer?
ENST00000643625.2:c.1680_1702dup ENSP00000495546.2:p.Gly568AlafsTer?
ENST00000643691.2:c.1317_1339dup ENSP00000494916.2:p.Gly447AlafsTer?
ENST00000644184.2:c.1680_1702dup ENSP00000495428.2:p.Gly568AlafsTer?
ENST00000645129.2:c.1524_1546dup ENSP00000493639.2:p.Gly516AlafsTer?
ENST00000646440.2:c.1680_1702dup ENSP00000495830.2:p.Gly568AlafsTer?
ENST00000298552.9:c.1680_1702dup MANE Select ENSP00000298552.3:p.Gly568AlafsTer?
ENST00000642617.1:c.1677_1699dup ENSP00000493773.1:p.Gly567AlafsTer?
ENST00000642627.1:c.1677_1699dup ENSP00000496772.1:p.Gly567AlafsTer?
ENST00000642811.1:c.*1450_*1472dup ENSP00000495554.1:n.*1450_*1472dup
ENST00000643072.1:c.1527_1549dup ENSP00000496691.1:p.Gly517AlafsTer?
ENST00000643275.1:c.198_220dup ENSP00000495598.1:p.Gly74AlafsTer?
ENST00000643583.1:c.1680_1702dup ENSP00000494685.1:p.Gly568AlafsTer?
ENST00000643875.1:c.1680_1702dup ENSP00000495158.1:p.Gly568AlafsTer?
ENST00000644097.1:c.1677_1699dup ENSP00000494682.1:p.Gly567AlafsTer?
ENST00000644184.1:c.417_439dup ENSP00000495428.1:p.Gly147AlafsTer?
ENST00000644255.1:c.*1447_*1469dup ENSP00000493608.1:n.*1447_*1469dup
ENST00000644319.1:n.2055_2077dup
ENST00000644882.1:n.635_657dup
ENST00000645901.1:n.2531_2553dup
ENST00000646391.1:c.*1450_*1472dup ENSP00000494104.1:n.*1450_*1472dup
ENST00000646625.1:c.1680_1702dup ENSP00000496263.1:p.Gly568AlafsTer?
ENST00000647262.1:n.645_667dup
ENST00000647279.1:c.*919_*941dup ENSP00000494502.1:n.*919_*941dup
ENST00000647506.1:n.2556_2578dup
ENST00000647534.1:n.744_766dup
ENST00000298552.7:c.1680_1702dup ENSP00000298552.3:p.Gly568AlafsTer?
ENST00000440111.6:c.1680_1702dup ENSP00000394524.2:p.Gly568AlafsTer?
ENST00000545250.5:c.1527_1549dup ENSP00000444017.1:p.Gly517AlafsTer?
NM_000368.4:c.1680_1702dup , LRG_486t1:c.1680_1702dup NP_000359.1:p.Gly568AlafsTer?
NM_001162426.1:c.1677_1699dup NP_001155898.1:p.Gly567AlafsTer?
NM_001162427.1:c.1527_1549dup NP_001155899.1:p.Gly517AlafsTer?
XM_005272211.1:c.1680_1702dup XP_005272268.1:p.Gly568AlafsTer?
XM_006717271.1:c.1680_1702dup XP_006717334.1:p.Gly568AlafsTer?
XM_006717272.2:c.1680_1702dup XP_006717335.1:p.Gly568AlafsTer?
XM_011518979.1:c.1680_1702dup XP_011517281.1:p.Gly568AlafsTer?
NM_001362177.1:c.1317_1339dup NP_001349106.1:p.Gly447AlafsTer?
XM_011518979.2:c.1680_1702dup XP_011517281.1:p.Gly568AlafsTer?
XM_017015096.1:c.1680_1702dup XP_016870585.1:p.Gly568AlafsTer?
XM_017015097.1:c.1680_1702dup XP_016870586.1:p.Gly568AlafsTer?
XM_017015098.1:c.1677_1699dup XP_016870587.1:p.Gly567AlafsTer?
XM_017015100.1:c.1317_1339dup XP_016870589.1:p.Gly447AlafsTer?
XM_017015101.1:c.1314_1336dup XP_016870590.1:p.Gly446AlafsTer?
NM_000368.5:c.1680_1702dup MANE Select NP_000359.1:p.Gly568AlafsTer?
NM_001162426.2:c.1677_1699dup NP_001155898.1:p.Gly567AlafsTer?
NM_001162427.2:c.1527_1549dup NP_001155899.1:p.Gly517AlafsTer?
NM_001362177.2:c.1317_1339dup NP_001349106.1:p.Gly447AlafsTer?