Canonical Allele Identifier: CA645557263
Community Standard Title: NM_000368.5(TSC1):c.1584_1585delinsTT (p.Ala529Ser)
Gene: TSC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132905993_132905994delinsAA , CM000671.2:g.132905993_132905994delinsAA GRCh38
NC_000009.11:g.135781380_135781381delinsAA , CM000671.1:g.135781380_135781381delinsAA GRCh37
NC_000009.10:g.134771201_134771202delinsAA NCBI36
NG_012386.1:g.43640_43641delinsTT , LRG_486:g.43640_43641delinsTT

Transcript Alleles

HGVS Amino-acid Change
NM_000368.5:c.1584_1585delinsTT MANE Select NP_000359.1:p.Ala529Ser
ENST00000298552.9:c.1584_1585delinsTT MANE Select ENSP00000298552.3:p.Ala529Ser
NM_000368.4:c.1584_1585delinsTT , LRG_486t1:c.1584_1585delinsTT NP_000359.1:p.Ala529Ser
NM_001162426.1:c.1581_1582delinsTT NP_001155898.1:p.Ala528Ser
NM_001162426.2:c.1581_1582delinsTT NP_001155898.1:p.Ala528Ser
NM_001162427.1:c.1431_1432delinsTT NP_001155899.1:p.Ala478Ser
NM_001162427.2:c.1431_1432delinsTT NP_001155899.1:p.Ala478Ser
NM_001362177.1:c.1221_1222delinsTT NP_001349106.1:p.Ala408Ser
NM_001362177.2:c.1221_1222delinsTT NP_001349106.1:p.Ala408Ser
ENST00000298552.7:c.1584_1585delinsTT ENSP00000298552.3:p.Ala529Ser
ENST00000440111.6:c.1584_1585delinsTT ENSP00000394524.2:p.Ala529Ser
ENST00000475903.7:c.1581_1582delinsTT ENSP00000496126.2:p.Ala528Ser
ENST00000490179.4:c.1584_1585delinsTT ENSP00000495533.2:p.Ala529Ser
ENST00000545250.5:c.1431_1432delinsTT ENSP00000444017.1:p.Ala478Ser
ENST00000642261.2:c.1584_1585delinsTT ENSP00000494743.2:p.Ala529Ser
ENST00000642617.1:c.1581_1582delinsTT ENSP00000493773.1:p.Ala528Ser
ENST00000642627.1:c.1581_1582delinsTT ENSP00000496772.1:p.Ala528Ser
ENST00000642811.1:c.*1354_*1355delinsTT ENSP00000495554.1:n.*1354_*1355delinsTT
ENST00000643072.1:c.1431_1432delinsTT ENSP00000496691.1:p.Ala478Ser
ENST00000643275.1:c.102_103delinsTT ENSP00000495598.1:p.Ala35Ser
ENST00000643275.2:c.1584_1585delinsTT ENSP00000495598.2:p.Ala529Ser
ENST00000643362.2:c.1197_1198delinsTT ENSP00000496398.2:p.Ala400Ser
ENST00000643583.1:c.1584_1585delinsTT ENSP00000494685.1:p.Ala529Ser
ENST00000643625.2:c.1584_1585delinsTT ENSP00000495546.2:p.Ala529Ser
ENST00000643691.2:c.1221_1222delinsTT ENSP00000494916.2:p.Ala408Ser
ENST00000643875.1:c.1584_1585delinsTT ENSP00000495158.1:p.Ala529Ser
ENST00000644097.1:c.1581_1582delinsTT ENSP00000494682.1:p.Ala528Ser
ENST00000644184.1:c.321_322delinsTT ENSP00000495428.1:p.Ala108Ser
ENST00000644184.2:c.1584_1585delinsTT ENSP00000495428.2:p.Ala529Ser
ENST00000644255.1:c.*1351_*1352delinsTT ENSP00000493608.1:n.*1351_*1352delinsTT
ENST00000644319.1:n.1959_1960delinsTT
ENST00000644882.1:n.539_540delinsTT
ENST00000645129.2:c.1428_1429delinsTT ENSP00000493639.2:p.Ala477Ser
ENST00000645901.1:n.2435_2436delinsTT
ENST00000646391.1:c.*1354_*1355delinsTT ENSP00000494104.1:n.*1354_*1355delinsTT
ENST00000646440.2:c.1584_1585delinsTT ENSP00000495830.2:p.Ala529Ser
ENST00000646625.1:c.1584_1585delinsTT ENSP00000496263.1:p.Ala529Ser
ENST00000647262.1:n.549_550delinsTT
ENST00000647279.1:c.*823_*824delinsTT ENSP00000494502.1:n.*823_*824delinsTT
ENST00000647506.1:n.2460_2461delinsTT
ENST00000647534.1:n.648_649delinsTT
XM_005272211.1:c.1584_1585delinsTT XP_005272268.1:p.Ala529Ser
XM_006717271.1:c.1584_1585delinsTT XP_006717334.1:p.Ala529Ser
XM_006717272.2:c.1584_1585delinsTT XP_006717335.1:p.Ala529Ser
XM_011518979.1:c.1584_1585delinsTT XP_011517281.1:p.Ala529Ser
XM_011518979.2:c.1584_1585delinsTT XP_011517281.1:p.Ala529Ser
XM_017015096.1:c.1584_1585delinsTT XP_016870585.1:p.Ala529Ser
XM_017015097.1:c.1584_1585delinsTT XP_016870586.1:p.Ala529Ser
XM_017015098.1:c.1581_1582delinsTT XP_016870587.1:p.Ala528Ser
XM_017015100.1:c.1221_1222delinsTT XP_016870589.1:p.Ala408Ser
XM_017015101.1:c.1218_1219delinsTT XP_016870590.1:p.Ala407Ser