Canonical Allele Identifier: CA006036
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 48905
dbSNP Id: rs118203645

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132903748_132903749del , CM000671.2:g.132903748_132903749del GRCh38
NC_000009.11:g.135779135_135779136del , CM000671.1:g.135779135_135779136del GRCh37
NC_000009.10:g.134768956_134768957del NCBI36
NG_012386.1:g.45886_45887del , LRG_486:g.45886_45887del

Transcript Alleles

HGVS Amino-acid change
ENST00000475903.7:c.2108_2109del ENSP00000496126.2:p.Tyr703Ter
ENST00000490179.4:c.2111_2112del ENSP00000495533.2:p.Tyr704Ter
ENST00000642261.2:c.2111_2112del ENSP00000494743.2:p.Tyr704Ter
ENST00000643275.2:c.*51_*52del ENSP00000495598.2:n.*51_*52del
ENST00000643362.2:c.1724_1725del ENSP00000496398.2:p.Tyr575Ter
ENST00000643625.2:c.2041+663_2041+664del ENSP00000495546.2:n.2041+663_2041+664del
ENST00000643691.2:c.1748_1749del ENSP00000494916.2:p.Tyr583Ter
ENST00000644184.2:c.2111_2112del ENSP00000495428.2:p.Tyr704Ter
ENST00000645129.2:c.1955_1956del ENSP00000493639.2:p.Tyr652Ter
ENST00000646440.2:c.2111_2112del ENSP00000495830.2:p.Tyr704Ter
ENST00000298552.9:c.2111_2112del MANE Select ENSP00000298552.3:p.Tyr704Ter
ENST00000642261.1:c.175_176del
ENST00000642617.1:c.2108_2109del ENSP00000493773.1:p.Tyr703Ter
ENST00000642627.1:c.2093_2094del ENSP00000496772.1:p.Tyr698Ter
ENST00000642811.1:c.*1881_*1882del ENSP00000495554.1:n.*1881_*1882del
ENST00000643072.1:c.1958_1959del ENSP00000496691.1:p.Tyr653Ter
ENST00000643275.1:c.585_586del ENSP00000495598.1:n.585_586del
ENST00000643583.1:c.2096_2097del ENSP00000494685.1:p.Tyr699Ter
ENST00000643625.1:c.85+663_85+664del ENSP00000495546.1:n.85+663_85+664del
ENST00000643875.1:c.2111_2112del ENSP00000495158.1:p.Tyr704Ter
ENST00000644097.1:c.2108_2109del ENSP00000494682.1:p.Tyr703Ter
ENST00000644184.1:c.848_849del ENSP00000495428.1:p.Tyr283Ter
ENST00000644255.1:c.*1878_*1879del ENSP00000493608.1:n.*1878_*1879del
ENST00000644319.1:n.2486_2487del
ENST00000644882.1:n.1066_1067del
ENST00000645901.1:n.2962_2963del
ENST00000646391.1:c.*1881_*1882del ENSP00000494104.1:n.*1881_*1882del
ENST00000646625.1:c.2111_2112del ENSP00000496263.1:p.Tyr704Ter
ENST00000647262.1:n.1076_1077del
ENST00000647279.1:c.*1350_*1351del ENSP00000494502.1:n.*1350_*1351del
ENST00000647506.1:n.2987_2988del
ENST00000647534.1:n.1175_1176del
ENST00000298552.7:c.2111_2112del ENSP00000298552.3:p.Tyr704Ter
ENST00000440111.6:c.2111_2112del ENSP00000394524.2:p.Tyr704Ter
ENST00000545250.5:c.1958_1959del ENSP00000444017.1:p.Tyr653Ter
NM_000368.4:c.2111_2112del , LRG_486t1:c.2111_2112del NP_000359.1:p.Tyr704Ter
NM_001162426.1:c.2108_2109del NP_001155898.1:p.Tyr703Ter
NM_001162427.1:c.1958_1959del NP_001155899.1:p.Tyr653Ter
XM_005272211.1:c.2111_2112del XP_005272268.1:p.Tyr704Ter
XM_006717271.1:c.2111_2112del XP_006717334.1:p.Tyr704Ter
XM_011518979.1:c.2111_2112del XP_011517281.1:p.Tyr704Ter
NM_001362177.1:c.1748_1749del NP_001349106.1:p.Tyr583Ter
XM_011518979.2:c.2111_2112del XP_011517281.1:p.Tyr704Ter
XM_017015096.1:c.2111_2112del XP_016870585.1:p.Tyr704Ter
XM_017015097.1:c.2111_2112del XP_016870586.1:p.Tyr704Ter
XM_017015098.1:c.2108_2109del XP_016870587.1:p.Tyr703Ter
XM_017015100.1:c.1748_1749del XP_016870589.1:p.Tyr583Ter
XM_017015101.1:c.1745_1746del XP_016870590.1:p.Tyr582Ter
NM_000368.5:c.2111_2112del MANE Select NP_000359.1:p.Tyr704Ter
NM_001162426.2:c.2108_2109del NP_001155898.1:p.Tyr703Ter
NM_001162427.2:c.1958_1959del NP_001155899.1:p.Tyr653Ter
NM_001362177.2:c.1748_1749del NP_001349106.1:p.Tyr583Ter