Canonical Allele Identifier: CA2507988834
Gene: TSC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132907523_132907524insCG , CM000671.2:g.132907523_132907524insCG GRCh38
NC_000009.11:g.135782910_135782911insCG , CM000671.1:g.135782910_135782911insCG GRCh37
NC_000009.10:g.134772731_134772732insCG NCBI36
NG_012386.1:g.42110_42111insCG , LRG_486:g.42110_42111insCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000475903.7:c.1261-154_1261-153insCG ENSP00000496126.2:n.1261-154_1261-153insCG
ENST00000490179.4:c.1264-154_1264-153insCG ENSP00000495533.2:n.1264-154_1264-153insCG
ENST00000642261.2:c.1264-154_1264-153insCG ENSP00000494743.2:n.1264-154_1264-153insCG
ENST00000643275.2:c.1264-154_1264-153insCG ENSP00000495598.2:n.1264-154_1264-153insCG
ENST00000643362.2:c.877-154_877-153insCG ENSP00000496398.2:n.877-154_877-153insCG
ENST00000643625.2:c.1264-154_1264-153insCG ENSP00000495546.2:n.1264-154_1264-153insCG
ENST00000643691.2:c.901-154_901-153insCG ENSP00000494916.2:n.901-154_901-153insCG
ENST00000644184.2:c.1264-154_1264-153insCG ENSP00000495428.2:n.1264-154_1264-153insCG
ENST00000645129.2:c.1108-154_1108-153insCG ENSP00000493639.2:n.1108-154_1108-153insCG
ENST00000646440.2:c.1264-154_1264-153insCG ENSP00000495830.2:n.1264-154_1264-153insCG
ENST00000298552.9:c.1264-154_1264-153insCG MANE Select ENSP00000298552.3:n.1264-154_1264-153insCG
ENST00000642344.1:c.*1005-154_*1005-153insCG ENSP00000494847.1:n.*1005-154_*1005-153insCG
ENST00000642617.1:c.1261-154_1261-153insCG ENSP00000493773.1:n.1261-154_1261-153insCG
ENST00000642627.1:c.1261-154_1261-153insCG ENSP00000496772.1:n.1261-154_1261-153insCG
ENST00000642811.1:c.*1034-154_*1034-153insCG ENSP00000495554.1:n.*1034-154_*1034-153insCG
ENST00000643072.1:c.1111-154_1111-153insCG ENSP00000496691.1:n.1111-154_1111-153insCG
ENST00000643362.1:c.877-154_877-153insCG ENSP00000496398.1:n.877-154_877-153insCG
ENST00000643583.1:c.1264-154_1264-153insCG ENSP00000494685.1:n.1264-154_1264-153insCG
ENST00000643875.1:c.1264-154_1264-153insCG ENSP00000495158.1:n.1264-154_1264-153insCG
ENST00000644097.1:c.1261-154_1261-153insCG ENSP00000494682.1:n.1261-154_1261-153insCG
ENST00000644255.1:c.*1031-154_*1031-153insCG ENSP00000493608.1:n.*1031-154_*1031-153insCG
ENST00000644319.1:n.1639-154_1639-153insCG
ENST00000645901.1:n.2115-154_2115-153insCG
ENST00000646391.1:c.*1034-154_*1034-153insCG ENSP00000494104.1:n.*1034-154_*1034-153insCG
ENST00000646625.1:c.1264-154_1264-153insCG ENSP00000496263.1:n.1264-154_1264-153insCG
ENST00000647279.1:c.*503-154_*503-153insCG ENSP00000494502.1:n.*503-154_*503-153insCG
ENST00000647506.1:n.2140-154_2140-153insCG
ENST00000647534.1:n.328-154_328-153insCG
ENST00000298552.7:c.1264-154_1264-153insCG ENSP00000298552.3:n.1264-154_1264-153insCG
ENST00000440111.6:c.1264-154_1264-153insCG ENSP00000394524.2:n.1264-154_1264-153insCG
ENST00000545250.5:c.1111-154_1111-153insCG ENSP00000444017.1:n.1111-154_1111-153insCG
NM_000368.4:c.1264-154_1264-153insCG , LRG_486t1:c.1264-154_1264-153insCG NP_000359.1:n.1264-154_1264-153insCG
NM_001162426.1:c.1261-154_1261-153insCG NP_001155898.1:n.1261-154_1261-153insCG
NM_001162427.1:c.1111-154_1111-153insCG NP_001155899.1:n.1111-154_1111-153insCG
XM_005272211.1:c.1264-154_1264-153insCG XP_005272268.1:n.1264-154_1264-153insCG
XM_006717271.1:c.1264-154_1264-153insCG XP_006717334.1:n.1264-154_1264-153insCG
XM_006717272.2:c.1264-154_1264-153insCG XP_006717335.1:n.1264-154_1264-153insCG
XM_011518979.1:c.1264-154_1264-153insCG XP_011517281.1:n.1264-154_1264-153insCG
NM_001362177.1:c.901-154_901-153insCG NP_001349106.1:n.901-154_901-153insCG
XM_011518979.2:c.1264-154_1264-153insCG XP_011517281.1:n.1264-154_1264-153insCG
XM_017015096.1:c.1264-154_1264-153insCG XP_016870585.1:n.1264-154_1264-153insCG
XM_017015097.1:c.1264-154_1264-153insCG XP_016870586.1:n.1264-154_1264-153insCG
XM_017015098.1:c.1261-154_1261-153insCG XP_016870587.1:n.1261-154_1261-153insCG
XM_017015100.1:c.901-154_901-153insCG XP_016870589.1:n.901-154_901-153insCG
XM_017015101.1:c.898-154_898-153insCG XP_016870590.1:n.898-154_898-153insCG
NM_000368.5:c.1264-154_1264-153insCG MANE Select NP_000359.1:n.1264-154_1264-153insCG
NM_001162426.2:c.1261-154_1261-153insCG NP_001155898.1:n.1261-154_1261-153insCG
NM_001162427.2:c.1111-154_1111-153insCG NP_001155899.1:n.1111-154_1111-153insCG
NM_001362177.2:c.901-154_901-153insCG NP_001349106.1:n.901-154_901-153insCG