Canonical Allele Identifier: CA1882411077
Gene: TSC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132903748_132903750delinsTAG , CM000671.2:g.132903748_132903750delinsTAG GRCh38
NC_000009.11:g.135779135_135779137delinsTAG , CM000671.1:g.135779135_135779137delinsTAG GRCh37
NC_000009.10:g.134768956_134768958delinsTAG NCBI36
NG_012386.1:g.45884_45886delinsCTA , LRG_486:g.45884_45886delinsCTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000475903.7:c.2106_2108delinsCTA ENSP00000496126.2:p.Leu702=
ENST00000490179.4:c.2109_2111delinsCTA ENSP00000495533.2:p.Leu703=
ENST00000642261.2:c.2109_2111delinsCTA ENSP00000494743.2:p.Leu703=
ENST00000643275.2:c.*49_*51delinsCTA ENSP00000495598.2:n.*49_*51delinsCTA
ENST00000643362.2:c.1722_1724delinsCTA ENSP00000496398.2:p.Leu574=
ENST00000643625.2:c.2041+661_2041+663delinsCTA ENSP00000495546.2:n.2041+661_2041+663delinsCTA
ENST00000643691.2:c.1746_1748delinsCTA ENSP00000494916.2:p.Leu582=
ENST00000644184.2:c.2109_2111delinsCTA ENSP00000495428.2:p.Leu703=
ENST00000645129.2:c.1953_1955delinsCTA ENSP00000493639.2:p.Leu651=
ENST00000646440.2:c.2109_2111delinsCTA ENSP00000495830.2:p.Leu703=
ENST00000298552.9:c.2109_2111delinsCTA MANE Select ENSP00000298552.3:p.Leu703=
ENST00000642261.1:c.173_175delinsCTA
ENST00000642617.1:c.2106_2108delinsCTA ENSP00000493773.1:p.Leu702=
ENST00000642627.1:c.2091_2093delinsCTA ENSP00000496772.1:p.Leu697=
ENST00000642811.1:c.*1879_*1881delinsCTA ENSP00000495554.1:n.*1879_*1881delinsCTA
ENST00000643072.1:c.1956_1958delinsCTA ENSP00000496691.1:p.Leu652=
ENST00000643275.1:c.583_585delinsCTA ENSP00000495598.1:n.583_585delinsCTA
ENST00000643583.1:c.2094_2096delinsCTA ENSP00000494685.1:p.Leu698=
ENST00000643625.1:c.85+661_85+663delinsCTA ENSP00000495546.1:n.85+661_85+663delinsCTA
ENST00000643875.1:c.2109_2111delinsCTA ENSP00000495158.1:p.Leu703=
ENST00000644097.1:c.2106_2108delinsCTA ENSP00000494682.1:p.Leu702=
ENST00000644184.1:c.846_848delinsCTA ENSP00000495428.1:p.Leu282=
ENST00000644255.1:c.*1876_*1878delinsCTA ENSP00000493608.1:n.*1876_*1878delinsCTA
ENST00000644319.1:n.2484_2486delinsCTA
ENST00000644882.1:n.1064_1066delinsCTA
ENST00000645901.1:n.2960_2962delinsCTA
ENST00000646391.1:c.*1879_*1881delinsCTA ENSP00000494104.1:n.*1879_*1881delinsCTA
ENST00000646625.1:c.2109_2111delinsCTA ENSP00000496263.1:p.Leu703=
ENST00000647262.1:n.1074_1076delinsCTA
ENST00000647279.1:c.*1348_*1350delinsCTA ENSP00000494502.1:n.*1348_*1350delinsCTA
ENST00000647506.1:n.2985_2987delinsCTA
ENST00000647534.1:n.1173_1175delinsCTA
ENST00000298552.7:c.2109_2111delinsCTA ENSP00000298552.3:p.Leu703=
ENST00000440111.6:c.2109_2111delinsCTA ENSP00000394524.2:p.Leu703=
ENST00000545250.5:c.1956_1958delinsCTA ENSP00000444017.1:p.Leu652=
NM_000368.4:c.2109_2111delinsCTA , LRG_486t1:c.2109_2111delinsCTA NP_000359.1:p.Leu703=
NM_001162426.1:c.2106_2108delinsCTA NP_001155898.1:p.Leu702=
NM_001162427.1:c.1956_1958delinsCTA NP_001155899.1:p.Leu652=
XM_005272211.1:c.2109_2111delinsCTA XP_005272268.1:p.Leu703=
XM_006717271.1:c.2109_2111delinsCTA XP_006717334.1:p.Leu703=
XM_011518979.1:c.2109_2111delinsCTA XP_011517281.1:p.Leu703=
NM_001362177.1:c.1746_1748delinsCTA NP_001349106.1:p.Leu582=
XM_011518979.2:c.2109_2111delinsCTA XP_011517281.1:p.Leu703=
XM_017015096.1:c.2109_2111delinsCTA XP_016870585.1:p.Leu703=
XM_017015097.1:c.2109_2111delinsCTA XP_016870586.1:p.Leu703=
XM_017015098.1:c.2106_2108delinsCTA XP_016870587.1:p.Leu702=
XM_017015100.1:c.1746_1748delinsCTA XP_016870589.1:p.Leu582=
XM_017015101.1:c.1743_1745delinsCTA XP_016870590.1:p.Leu581=
NM_000368.5:c.2109_2111delinsCTA MANE Select NP_000359.1:p.Leu703=
NM_001162426.2:c.2106_2108delinsCTA NP_001155898.1:p.Leu702=
NM_001162427.2:c.1956_1958delinsCTA NP_001155899.1:p.Leu652=
NM_001362177.2:c.1746_1748delinsCTA NP_001349106.1:p.Leu582=