Canonical Allele Identifier: CA1882411127
Gene: TSC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132903752_132903753delinsGT , CM000671.2:g.132903752_132903753delinsGT GRCh38
NC_000009.11:g.135779139_135779140delinsGT , CM000671.1:g.135779139_135779140delinsGT GRCh37
NC_000009.10:g.134768960_134768961delinsGT NCBI36
NG_012386.1:g.45881_45882delinsAC , LRG_486:g.45881_45882delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000475903.7:c.2103_2104delinsAC ENSP00000496126.2:p.Leu701=
ENST00000490179.4:c.2106_2107delinsAC ENSP00000495533.2:p.Leu702=
ENST00000642261.2:c.2106_2107delinsAC ENSP00000494743.2:p.Leu702=
ENST00000643275.2:c.*46_*47delinsAC ENSP00000495598.2:n.*46_*47delinsAC
ENST00000643362.2:c.1719_1720delinsAC ENSP00000496398.2:p.Leu573=
ENST00000643625.2:c.2041+658_2041+659delinsAC ENSP00000495546.2:n.2041+658_2041+659delinsAC
ENST00000643691.2:c.1743_1744delinsAC ENSP00000494916.2:p.Leu581=
ENST00000644184.2:c.2106_2107delinsAC ENSP00000495428.2:p.Leu702=
ENST00000645129.2:c.1950_1951delinsAC ENSP00000493639.2:p.Leu650=
ENST00000646440.2:c.2106_2107delinsAC ENSP00000495830.2:p.Leu702=
ENST00000298552.9:c.2106_2107delinsAC MANE Select ENSP00000298552.3:p.Leu702=
ENST00000642261.1:c.170_171delinsAC
ENST00000642617.1:c.2103_2104delinsAC ENSP00000493773.1:p.Leu701=
ENST00000642627.1:c.2088_2089delinsAC ENSP00000496772.1:p.Leu696=
ENST00000642811.1:c.*1876_*1877delinsAC ENSP00000495554.1:n.*1876_*1877delinsAC
ENST00000643072.1:c.1953_1954delinsAC ENSP00000496691.1:p.Leu651=
ENST00000643275.1:c.580_581delinsAC ENSP00000495598.1:n.580_581delinsAC
ENST00000643583.1:c.2091_2092delinsAC ENSP00000494685.1:p.Leu697=
ENST00000643625.1:c.85+658_85+659delinsAC ENSP00000495546.1:n.85+658_85+659delinsAC
ENST00000643875.1:c.2106_2107delinsAC ENSP00000495158.1:p.Leu702=
ENST00000644097.1:c.2103_2104delinsAC ENSP00000494682.1:p.Leu701=
ENST00000644184.1:c.843_844delinsAC ENSP00000495428.1:p.Leu281=
ENST00000644255.1:c.*1873_*1874delinsAC ENSP00000493608.1:n.*1873_*1874delinsAC
ENST00000644319.1:n.2481_2482delinsAC
ENST00000644882.1:n.1061_1062delinsAC
ENST00000645901.1:n.2957_2958delinsAC
ENST00000646391.1:c.*1876_*1877delinsAC ENSP00000494104.1:n.*1876_*1877delinsAC
ENST00000646625.1:c.2106_2107delinsAC ENSP00000496263.1:p.Leu702=
ENST00000647262.1:n.1071_1072delinsAC
ENST00000647279.1:c.*1345_*1346delinsAC ENSP00000494502.1:n.*1345_*1346delinsAC
ENST00000647506.1:n.2982_2983delinsAC
ENST00000647534.1:n.1170_1171delinsAC
ENST00000298552.7:c.2106_2107delinsAC ENSP00000298552.3:p.Leu702=
ENST00000440111.6:c.2106_2107delinsAC ENSP00000394524.2:p.Leu702=
ENST00000545250.5:c.1953_1954delinsAC ENSP00000444017.1:p.Leu651=
NM_000368.4:c.2106_2107delinsAC , LRG_486t1:c.2106_2107delinsAC NP_000359.1:p.Leu702=
NM_001162426.1:c.2103_2104delinsAC NP_001155898.1:p.Leu701=
NM_001162427.1:c.1953_1954delinsAC NP_001155899.1:p.Leu651=
XM_005272211.1:c.2106_2107delinsAC XP_005272268.1:p.Leu702=
XM_006717271.1:c.2106_2107delinsAC XP_006717334.1:p.Leu702=
XM_011518979.1:c.2106_2107delinsAC XP_011517281.1:p.Leu702=
NM_001362177.1:c.1743_1744delinsAC NP_001349106.1:p.Leu581=
XM_011518979.2:c.2106_2107delinsAC XP_011517281.1:p.Leu702=
XM_017015096.1:c.2106_2107delinsAC XP_016870585.1:p.Leu702=
XM_017015097.1:c.2106_2107delinsAC XP_016870586.1:p.Leu702=
XM_017015098.1:c.2103_2104delinsAC XP_016870587.1:p.Leu701=
XM_017015100.1:c.1743_1744delinsAC XP_016870589.1:p.Leu581=
XM_017015101.1:c.1740_1741delinsAC XP_016870590.1:p.Leu580=
NM_000368.5:c.2106_2107delinsAC MANE Select NP_000359.1:p.Leu702=
NM_001162426.2:c.2103_2104delinsAC NP_001155898.1:p.Leu701=
NM_001162427.2:c.1953_1954delinsAC NP_001155899.1:p.Leu651=
NM_001362177.2:c.1743_1744delinsAC NP_001349106.1:p.Leu581=