Canonical Allele Identifier: CA16618766
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 420479
ClinVar RCV Id: RCV000482635
dbSNP Id: rs1064794504

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132902703_132902704insA , CM000671.2:g.132902703_132902704insA GRCh38
NC_000009.11:g.135778090_135778091insA , CM000671.1:g.135778090_135778091insA GRCh37
NC_000009.10:g.134767911_134767912insA NCBI36
NG_012386.1:g.46930_46931insT , LRG_486:g.46930_46931insT

Transcript Alleles

HGVS Amino-acid change
ENST00000475903.7:c.2289_2290insT ENSP00000496126.2:p.Gln764SerfsTer5
ENST00000490179.4:c.2292_2293insT ENSP00000495533.2:p.Gln765SerfsTer5
ENST00000642261.2:c.*71_*72insT ENSP00000494743.2:n.*71_*72insT
ENST00000643275.2:c.*232_*233insT ENSP00000495598.2:n.*232_*233insT
ENST00000643362.2:c.1905_1906insT ENSP00000496398.2:p.Gln636SerfsTer5
ENST00000643625.2:c.*34_*35insT ENSP00000495546.2:n.*34_*35insT
ENST00000643691.2:c.1929_1930insT ENSP00000494916.2:p.Gln644SerfsTer5
ENST00000644184.2:c.2292_2293insT ENSP00000495428.2:p.Gln765SerfsTer5
ENST00000645129.2:c.2136_2137insT ENSP00000493639.2:p.Gln713SerfsTer5
ENST00000646440.2:c.2292_2293insT ENSP00000495830.2:p.Gln765SerfsTer5
ENST00000298552.9:c.2292_2293insT MANE Select ENSP00000298552.3:p.Gln765SerfsTer5
ENST00000642261.1:c.352_353insT
ENST00000642617.1:c.2289_2290insT ENSP00000493773.1:p.Gln764SerfsTer5
ENST00000642627.1:c.2274_2275insT ENSP00000496772.1:p.Gln759SerfsTer5
ENST00000642811.1:c.*2062_*2063insT ENSP00000495554.1:n.*2062_*2063insT
ENST00000643072.1:c.2139_2140insT ENSP00000496691.1:p.Gln714SerfsTer5
ENST00000643275.1:c.766_767insT ENSP00000495598.1:n.766_767insT
ENST00000643583.1:c.2277_2278insT ENSP00000494685.1:p.Gln760SerfsTer5
ENST00000643625.1:c.169_170insT ENSP00000495546.1:n.169_170insT
ENST00000643875.1:c.2292_2293insT ENSP00000495158.1:p.Gln765SerfsTer5
ENST00000644097.1:c.2289_2290insT ENSP00000494682.1:p.Gln764SerfsTer5
ENST00000644184.1:c.1029_1030insT ENSP00000495428.1:p.Gln344SerfsTer5
ENST00000644255.1:c.*2059_*2060insT ENSP00000493608.1:n.*2059_*2060insT
ENST00000644319.1:n.2667_2668insT
ENST00000644882.1:n.1247_1248insT
ENST00000645901.1:n.3143_3144insT
ENST00000646391.1:c.*2062_*2063insT ENSP00000494104.1:n.*2062_*2063insT
ENST00000646625.1:c.2292_2293insT ENSP00000496263.1:p.Gln765SerfsTer5
ENST00000647262.1:n.1257_1258insT
ENST00000647279.1:c.*1531_*1532insT ENSP00000494502.1:n.*1531_*1532insT
ENST00000647506.1:n.3168_3169insT
ENST00000647534.1:n.1356_1357insT
ENST00000298552.7:c.2292_2293insT ENSP00000298552.3:p.Gln765SerfsTer5
ENST00000440111.6:c.2292_2293insT ENSP00000394524.2:p.Gln765SerfsTer5
ENST00000545250.5:c.2139_2140insT ENSP00000444017.1:p.Gln714SerfsTer5
NM_000368.4:c.2292_2293insT , LRG_486t1:c.2292_2293insT NP_000359.1:p.Gln765SerfsTer5
NM_001162426.1:c.2289_2290insT NP_001155898.1:p.Gln764SerfsTer5
NM_001162427.1:c.2139_2140insT NP_001155899.1:p.Gln714SerfsTer5
XM_005272211.1:c.2292_2293insT XP_005272268.1:p.Gln765SerfsTer5
XM_006717271.1:c.2292_2293insT XP_006717334.1:p.Gln765SerfsTer5
XM_011518979.1:c.2292_2293insT XP_011517281.1:p.Gln765SerfsTer5
NM_001362177.1:c.1929_1930insT NP_001349106.1:p.Gln644SerfsTer5
XM_011518979.2:c.2292_2293insT XP_011517281.1:p.Gln765SerfsTer5
XM_017015096.1:c.2292_2293insT XP_016870585.1:p.Gln765SerfsTer5
XM_017015097.1:c.2292_2293insT XP_016870586.1:p.Gln765SerfsTer5
XM_017015098.1:c.2289_2290insT XP_016870587.1:p.Gln764SerfsTer5
XM_017015100.1:c.1929_1930insT XP_016870589.1:p.Gln644SerfsTer5
XM_017015101.1:c.1926_1927insT XP_016870590.1:p.Gln643SerfsTer5
NM_000368.5:c.2292_2293insT MANE Select NP_000359.1:p.Gln765SerfsTer5
NM_001162426.2:c.2289_2290insT NP_001155898.1:p.Gln764SerfsTer5
NM_001162427.2:c.2139_2140insT NP_001155899.1:p.Gln714SerfsTer5
NM_001362177.2:c.1929_1930insT NP_001349106.1:p.Gln644SerfsTer5