Canonical Allele Identifier: CA006569
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 48971
dbSNP Id: rs118203707

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132900830_132900833del , CM000671.2:g.132900830_132900833del GRCh38
NC_000009.11:g.135776217_135776220del , CM000671.1:g.135776217_135776220del GRCh37
NC_000009.10:g.134766038_134766041del NCBI36
NG_012386.1:g.48803_48806del , LRG_486:g.48803_48806del

Transcript Alleles

HGVS Amino-acid change
ENST00000475903.7:c.2506_2509del ENSP00000496126.2:p.Asn836ValfsTer11
ENST00000490179.4:c.2509_2512del ENSP00000495533.2:p.Asn837ValfsTer11
ENST00000642261.2:c.*288_*291del ENSP00000494743.2:n.*288_*291del
ENST00000643275.2:c.*449_*452del ENSP00000495598.2:n.*449_*452del
ENST00000643362.2:c.2122_2125del ENSP00000496398.2:p.Asn708ValfsTer11
ENST00000643625.2:c.*251_*254del ENSP00000495546.2:n.*251_*254del
ENST00000643691.2:c.2146_2149del ENSP00000494916.2:p.Asn716ValfsTer11
ENST00000644184.2:c.2467_2470del ENSP00000495428.2:p.Asn823ValfsTer11
ENST00000645129.2:c.2353_2356del ENSP00000493639.2:p.Asn785ValfsTer11
ENST00000646440.2:c.2509_2512del ENSP00000495830.2:p.Asn837ValfsTer11
ENST00000298552.9:c.2509_2512del MANE Select ENSP00000298552.3:p.Asn837ValfsTer11
ENST00000642261.1:c.569_572del
ENST00000642617.1:c.2506_2509del ENSP00000493773.1:p.Asn836ValfsTer11
ENST00000642627.1:c.2491_2494del ENSP00000496772.1:p.Asn831ValfsTer11
ENST00000642811.1:c.*2279_*2282del ENSP00000495554.1:n.*2279_*2282del
ENST00000643072.1:c.2356_2359del ENSP00000496691.1:p.Asn786ValfsTer11
ENST00000643275.1:c.983_986del ENSP00000495598.1:n.983_986del
ENST00000643583.1:c.2494_2497del ENSP00000494685.1:p.Asn832ValfsTer11
ENST00000643625.1:c.386_389del ENSP00000495546.1:n.386_389del
ENST00000643875.1:c.2509_2512del ENSP00000495158.1:p.Asn837ValfsTer11
ENST00000644097.1:c.2506_2509del ENSP00000494682.1:p.Asn836ValfsTer11
ENST00000644184.1:c.1204_1207del ENSP00000495428.1:p.Asn402ValfsTer11
ENST00000644255.1:c.*2276_*2279del ENSP00000493608.1:n.*2276_*2279del
ENST00000644319.1:n.2884_2887del
ENST00000644786.1:n.168_171del
ENST00000644882.1:n.1422_1425del
ENST00000645901.1:n.3360_3363del
ENST00000646391.1:c.*2279_*2282del ENSP00000494104.1:n.*2279_*2282del
ENST00000646625.1:c.2509_2512del ENSP00000496263.1:p.Asn837ValfsTer11
ENST00000647262.1:n.1474_1477del
ENST00000647279.1:c.*1748_*1751del ENSP00000494502.1:n.*1748_*1751del
ENST00000647506.1:n.3385_3388del
ENST00000647534.1:n.1573_1576del
ENST00000298552.7:c.2509_2512del ENSP00000298552.3:p.Asn837ValfsTer11
ENST00000440111.6:c.2509_2512del ENSP00000394524.2:p.Asn837ValfsTer11
ENST00000545250.5:c.2356_2359del ENSP00000444017.1:p.Asn786ValfsTer11
NM_000368.4:c.2509_2512del , LRG_486t1:c.2509_2512del NP_000359.1:p.Asn837ValfsTer11
NM_001162426.1:c.2506_2509del NP_001155898.1:p.Asn836ValfsTer11
NM_001162427.1:c.2356_2359del NP_001155899.1:p.Asn786ValfsTer11
XM_005272211.1:c.2509_2512del XP_005272268.1:p.Asn837ValfsTer11
XM_006717271.1:c.2509_2512del XP_006717334.1:p.Asn837ValfsTer11
XM_011518979.1:c.2509_2512del XP_011517281.1:p.Asn837ValfsTer11
NM_001362177.1:c.2146_2149del NP_001349106.1:p.Asn716ValfsTer11
XM_011518979.2:c.2509_2512del XP_011517281.1:p.Asn837ValfsTer11
XM_017015096.1:c.2509_2512del XP_016870585.1:p.Asn837ValfsTer11
XM_017015097.1:c.2509_2512del XP_016870586.1:p.Asn837ValfsTer11
XM_017015098.1:c.2506_2509del XP_016870587.1:p.Asn836ValfsTer11
XM_017015100.1:c.2146_2149del XP_016870589.1:p.Asn716ValfsTer11
XM_017015101.1:c.2143_2146del XP_016870590.1:p.Asn715ValfsTer11
NM_000368.5:c.2509_2512del MANE Select NP_000359.1:p.Asn837ValfsTer11
NM_001162426.2:c.2506_2509del NP_001155898.1:p.Asn836ValfsTer11
NM_001162427.2:c.2356_2359del NP_001155899.1:p.Asn786ValfsTer11
NM_001362177.2:c.2146_2149del NP_001349106.1:p.Asn716ValfsTer11