Canonical Allele Identifier: CA653823964
Gene: TSC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132896194_132896195insC , CM000671.2:g.132896194_132896195insC GRCh38
NC_000009.11:g.135771581_135771582insC , CM000671.1:g.135771581_135771582insC GRCh37
NC_000009.10:g.134761402_134761403insC NCBI36
NG_012386.1:g.53439_53440insG , LRG_486:g.53439_53440insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000475903.7:c.*40_*41insG ENSP00000496126.2:n.*40_*41insG
ENST00000490179.4:c.*40_*41insG ENSP00000495533.2:n.*40_*41insG
ENST00000642261.2:c.*1391_*1392insG ENSP00000494743.2:n.*1391_*1392insG
ENST00000643275.2:c.*1475_*1476insG ENSP00000495598.2:n.*1475_*1476insG
ENST00000643362.2:c.*40_*41insG ENSP00000496398.2:n.*40_*41insG
ENST00000643625.2:c.*1277_*1278insG ENSP00000495546.2:n.*1277_*1278insG
ENST00000643691.2:c.*40_*41insG ENSP00000494916.2:n.*40_*41insG
ENST00000644184.2:c.*40_*41insG ENSP00000495428.2:n.*40_*41insG
ENST00000645129.2:c.*40_*41insG ENSP00000493639.2:n.*40_*41insG
ENST00000646440.2:c.*40_*41insG ENSP00000495830.2:n.*40_*41insG
ENST00000298552.9:c.*40_*41insG MANE Select ENSP00000298552.3:n.*40_*41insG
ENST00000642617.1:c.*40_*41insG ENSP00000493773.1:n.*40_*41insG
ENST00000642627.1:c.*40_*41insG ENSP00000496772.1:n.*40_*41insG
ENST00000642811.1:c.*3305_*3306insG ENSP00000495554.1:n.*3305_*3306insG
ENST00000643583.1:c.*40_*41insG ENSP00000494685.1:n.*40_*41insG
ENST00000643625.1:c.1412_1413insG ENSP00000495546.1:n.1412_1413insG
ENST00000643875.1:c.*40_*41insG ENSP00000495158.1:n.*40_*41insG
ENST00000644097.1:c.*40_*41insG ENSP00000494682.1:n.*40_*41insG
ENST00000644184.1:c.2230_2231insG ENSP00000495428.1:n.2230_2231insG
ENST00000644255.1:c.*3302_*3303insG ENSP00000493608.1:n.*3302_*3303insG
ENST00000644319.1:n.3910_3911insG
ENST00000644786.1:n.1194_1195insG
ENST00000644882.1:n.2443_2444insG
ENST00000645901.1:n.4386_4387insG
ENST00000646391.1:c.*3305_*3306insG ENSP00000494104.1:n.*3305_*3306insG
ENST00000646625.1:c.*40_*41insG ENSP00000496263.1:n.*40_*41insG
ENST00000647262.1:n.2500_2501insG
ENST00000647279.1:c.*2774_*2775insG ENSP00000494502.1:n.*2774_*2775insG
ENST00000647534.1:n.2599_2600insG
ENST00000298552.7:c.*40_*41insG ENSP00000298552.3:n.*40_*41insG
ENST00000440111.6:c.*40_*41insG ENSP00000394524.2:n.*40_*41insG
ENST00000545250.5:c.*40_*41insG ENSP00000444017.1:n.*40_*41insG
NM_000368.4:c.*40_*41insG , LRG_486t1:c.*40_*41insG NP_000359.1:n.*40_*41insG
NM_001162426.1:c.*40_*41insG NP_001155898.1:n.*40_*41insG
NM_001162427.1:c.*40_*41insG NP_001155899.1:n.*40_*41insG
XM_005272211.1:c.*40_*41insG XP_005272268.1:n.*40_*41insG
XM_006717271.1:c.*40_*41insG XP_006717334.1:n.*40_*41insG
XM_011518979.1:c.*40_*41insG XP_011517281.1:n.*40_*41insG
NM_001362177.1:c.*40_*41insG NP_001349106.1:n.*40_*41insG
XM_011518979.2:c.*40_*41insG XP_011517281.1:n.*40_*41insG
XM_017015096.1:c.*40_*41insG XP_016870585.1:n.*40_*41insG
XM_017015097.1:c.*40_*41insG XP_016870586.1:n.*40_*41insG
XM_017015098.1:c.*40_*41insG XP_016870587.1:n.*40_*41insG
XM_017015100.1:c.*40_*41insG XP_016870589.1:n.*40_*41insG
XM_017015101.1:c.*40_*41insG XP_016870590.1:n.*40_*41insG
NM_000368.5:c.*40_*41insG MANE Select NP_000359.1:n.*40_*41insG
NM_001162426.2:c.*40_*41insG NP_001155898.1:n.*40_*41insG
NM_001162427.2:c.*40_*41insG NP_001155899.1:n.*40_*41insG
NM_001362177.2:c.*40_*41insG NP_001349106.1:n.*40_*41insG