Canonical Allele Identifier: CA16042753
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 372541
ClinVar RCV Id: RCV000412759
dbSNP Id: rs1057517842

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132903750_132903753delinsAAACGCTCTTAAAACAA , CM000671.2:g.132903750_132903753delinsAAACGCTCTTAAAACAA GRCh38
NC_000009.11:g.135779137_135779140delinsAAACGCTCTTAAAACAA , CM000671.1:g.135779137_135779140delinsAAACGCTCTTAAAACAA GRCh37
NC_000009.10:g.134768958_134768961delinsAAACGCTCTTAAAACAA NCBI36
NG_012386.1:g.45881_45884delinsTTGTTTTAAGAGCGTTT , LRG_486:g.45881_45884delinsTTGTTTTAAGAGCGTTT

Transcript Alleles

HGVS Amino-acid change
ENST00000475903.7:c.2103_2106delinsTTGTTTTAAGAGCGTTT ENSP00000496126.2:p.Leu701PhefsTer8
ENST00000490179.4:c.2106_2109delinsTTGTTTTAAGAGCGTTT ENSP00000495533.2:p.Leu702PhefsTer8
ENST00000642261.2:c.2106_2109delinsTTGTTTTAAGAGCGTTT ENSP00000494743.2:p.Leu702PhefsTer8
ENST00000643275.2:c.*46_*49delinsTTGTTTTAAGAGCGTTT ENSP00000495598.2:n.*46_*49delinsTTGTTTTA...
ENST00000643362.2:c.1719_1722delinsTTGTTTTAAGAGCGTTT ENSP00000496398.2:p.Leu573PhefsTer8
ENST00000643625.2:c.2041+658_2041+661delinsTTGTTTTAAGAGCGTTT ENSP00000495546.2:n.2041+658_2041+661deli...
ENST00000643691.2:c.1743_1746delinsTTGTTTTAAGAGCGTTT ENSP00000494916.2:p.Leu581PhefsTer8
ENST00000644184.2:c.2106_2109delinsTTGTTTTAAGAGCGTTT ENSP00000495428.2:p.Leu702PhefsTer8
ENST00000645129.2:c.1950_1953delinsTTGTTTTAAGAGCGTTT ENSP00000493639.2:p.Leu650PhefsTer8
ENST00000646440.2:c.2106_2109delinsTTGTTTTAAGAGCGTTT ENSP00000495830.2:p.Leu702PhefsTer8
ENST00000298552.9:c.2106_2109delinsTTGTTTTAAGAGCGTTT MANE Select ENSP00000298552.3:p.Leu702PhefsTer8
ENST00000642261.1:c.170_173delinsTTGTTTTAAGAGCGTTT
ENST00000642617.1:c.2103_2106delinsTTGTTTTAAGAGCGTTT ENSP00000493773.1:p.Leu701PhefsTer8
ENST00000642627.1:c.2088_2091delinsTTGTTTTAAGAGCGTTT ENSP00000496772.1:p.Leu696PhefsTer8
ENST00000642811.1:c.*1876_*1879delinsTTGTTTTAAGAGCGTTT ENSP00000495554.1:n.*1876_*1879delinsTTGT...
ENST00000643072.1:c.1953_1956delinsTTGTTTTAAGAGCGTTT ENSP00000496691.1:p.Leu651PhefsTer8
ENST00000643275.1:c.580_583delinsTTGTTTTAAGAGCGTTT ENSP00000495598.1:n.580_583delinsTTGTTTTA...
ENST00000643583.1:c.2091_2094delinsTTGTTTTAAGAGCGTTT ENSP00000494685.1:p.Leu697PhefsTer8
ENST00000643625.1:c.85+658_85+661delinsTTGTTTTAAGAGCGTTT ENSP00000495546.1:n.85+658_85+661delinsTT...
ENST00000643875.1:c.2106_2109delinsTTGTTTTAAGAGCGTTT ENSP00000495158.1:p.Leu702PhefsTer8
ENST00000644097.1:c.2103_2106delinsTTGTTTTAAGAGCGTTT ENSP00000494682.1:p.Leu701PhefsTer8
ENST00000644184.1:c.843_846delinsTTGTTTTAAGAGCGTTT ENSP00000495428.1:p.Leu281PhefsTer8
ENST00000644255.1:c.*1873_*1876delinsTTGTTTTAAGAGCGTTT ENSP00000493608.1:n.*1873_*1876delinsTTGT...
ENST00000644319.1:n.2481_2484delinsTTGTTTTAAGAGCGTTT
ENST00000644882.1:n.1061_1064delinsTTGTTTTAAGAGCGTTT
ENST00000645901.1:n.2957_2960delinsTTGTTTTAAGAGCGTTT
ENST00000646391.1:c.*1876_*1879delinsTTGTTTTAAGAGCGTTT ENSP00000494104.1:n.*1876_*1879delinsTTGT...
ENST00000646625.1:c.2106_2109delinsTTGTTTTAAGAGCGTTT ENSP00000496263.1:p.Leu702PhefsTer8
ENST00000647262.1:n.1071_1074delinsTTGTTTTAAGAGCGTTT
ENST00000647279.1:c.*1345_*1348delinsTTGTTTTAAGAGCGTTT ENSP00000494502.1:n.*1345_*1348delinsTTGT...
ENST00000647506.1:n.2982_2985delinsTTGTTTTAAGAGCGTTT
ENST00000647534.1:n.1170_1173delinsTTGTTTTAAGAGCGTTT
ENST00000298552.7:c.2106_2109delinsTTGTTTTAAGAGCGTTT ENSP00000298552.3:p.Leu702PhefsTer8
ENST00000440111.6:c.2106_2109delinsTTGTTTTAAGAGCGTTT ENSP00000394524.2:p.Leu702PhefsTer8
ENST00000545250.5:c.1953_1956delinsTTGTTTTAAGAGCGTTT ENSP00000444017.1:p.Leu651PhefsTer8
NM_000368.4:c.2106_2109delinsTTGTTTTAAGAGCGTTT , LRG_486t1:c.2106_2109delinsTTGTTTTAAGAGCGTTT NP_000359.1:p.Leu702PhefsTer8
NM_001162426.1:c.2103_2106delinsTTGTTTTAAGAGCGTTT NP_001155898.1:p.Leu701PhefsTer8
NM_001162427.1:c.1953_1956delinsTTGTTTTAAGAGCGTTT NP_001155899.1:p.Leu651PhefsTer8
XM_005272211.1:c.2106_2109delinsTTGTTTTAAGAGCGTTT XP_005272268.1:p.Leu702PhefsTer8
XM_006717271.1:c.2106_2109delinsTTGTTTTAAGAGCGTTT XP_006717334.1:p.Leu702PhefsTer8
XM_011518979.1:c.2106_2109delinsTTGTTTTAAGAGCGTTT XP_011517281.1:p.Leu702PhefsTer8
NM_001362177.1:c.1743_1746delinsTTGTTTTAAGAGCGTTT NP_001349106.1:p.Leu581PhefsTer8
XM_011518979.2:c.2106_2109delinsTTGTTTTAAGAGCGTTT XP_011517281.1:p.Leu702PhefsTer8
XM_017015096.1:c.2106_2109delinsTTGTTTTAAGAGCGTTT XP_016870585.1:p.Leu702PhefsTer8
XM_017015097.1:c.2106_2109delinsTTGTTTTAAGAGCGTTT XP_016870586.1:p.Leu702PhefsTer8
XM_017015098.1:c.2103_2106delinsTTGTTTTAAGAGCGTTT XP_016870587.1:p.Leu701PhefsTer8
XM_017015100.1:c.1743_1746delinsTTGTTTTAAGAGCGTTT XP_016870589.1:p.Leu581PhefsTer8
XM_017015101.1:c.1740_1743delinsTTGTTTTAAGAGCGTTT XP_016870590.1:p.Leu580PhefsTer8
NM_000368.5:c.2106_2109delinsTTGTTTTAAGAGCGTTT MANE Select NP_000359.1:p.Leu702PhefsTer8
NM_001162426.2:c.2103_2106delinsTTGTTTTAAGAGCGTTT NP_001155898.1:p.Leu701PhefsTer8
NM_001162427.2:c.1953_1956delinsTTGTTTTAAGAGCGTTT NP_001155899.1:p.Leu651PhefsTer8
NM_001362177.2:c.1743_1746delinsTTGTTTTAAGAGCGTTT NP_001349106.1:p.Leu581PhefsTer8