Canonical Allele Identifier: CA1882415757

Gene: TSC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132907596_132907599delinsTCTC , CM000671.2:g.132907596_132907599delinsTCTC	GRCh38
NC_000009.11:g.135782983_135782986delinsTCTC , CM000671.1:g.135782983_135782986delinsTCTC	GRCh37
NC_000009.10:g.134772804_134772807delinsTCTC	NCBI36
NG_012386.1:g.42035_42038delinsGAGA , LRG_486:g.42035_42038delinsGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.1261-229_1261-226delinsGAGA	ENSP00000496126.2:n.1261-229_1261-226delinsGAGA
ENST00000490179.4:c.1264-229_1264-226delinsGAGA	ENSP00000495533.2:n.1264-229_1264-226delinsGAGA
ENST00000642261.2:c.1264-229_1264-226delinsGAGA	ENSP00000494743.2:n.1264-229_1264-226delinsGAGA
ENST00000643275.2:c.1264-229_1264-226delinsGAGA	ENSP00000495598.2:n.1264-229_1264-226delinsGAGA
ENST00000643362.2:c.877-229_877-226delinsGAGA	ENSP00000496398.2:n.877-229_877-226delinsGAGA
ENST00000643625.2:c.1264-229_1264-226delinsGAGA	ENSP00000495546.2:n.1264-229_1264-226delinsGAGA
ENST00000643691.2:c.901-229_901-226delinsGAGA	ENSP00000494916.2:n.901-229_901-226delinsGAGA
ENST00000644184.2:c.1264-229_1264-226delinsGAGA	ENSP00000495428.2:n.1264-229_1264-226delinsGAGA
ENST00000645129.2:c.1108-229_1108-226delinsGAGA	ENSP00000493639.2:n.1108-229_1108-226delinsGAGA
ENST00000646440.2:c.1264-229_1264-226delinsGAGA	ENSP00000495830.2:n.1264-229_1264-226delinsGAGA
ENST00000298552.9:c.1264-229_1264-226delinsGAGA MANE Select	ENSP00000298552.3:n.1264-229_1264-226delinsGAGA
ENST00000642344.1:c.*1005-229_*1005-226delinsGAGA	ENSP00000494847.1:n.*1005-229_*1005-226delinsGAGA
ENST00000642617.1:c.1261-229_1261-226delinsGAGA	ENSP00000493773.1:n.1261-229_1261-226delinsGAGA
ENST00000642627.1:c.1261-229_1261-226delinsGAGA	ENSP00000496772.1:n.1261-229_1261-226delinsGAGA
ENST00000642811.1:c.*1034-229_*1034-226delinsGAGA	ENSP00000495554.1:n.*1034-229_*1034-226delinsGAGA
ENST00000643072.1:c.1111-229_1111-226delinsGAGA	ENSP00000496691.1:n.1111-229_1111-226delinsGAGA
ENST00000643362.1:c.877-229_877-226delinsGAGA	ENSP00000496398.1:n.877-229_877-226delinsGAGA
ENST00000643583.1:c.1264-229_1264-226delinsGAGA	ENSP00000494685.1:n.1264-229_1264-226delinsGAGA
ENST00000643875.1:c.1264-229_1264-226delinsGAGA	ENSP00000495158.1:n.1264-229_1264-226delinsGAGA
ENST00000644097.1:c.1261-229_1261-226delinsGAGA	ENSP00000494682.1:n.1261-229_1261-226delinsGAGA
ENST00000644255.1:c.*1031-229_*1031-226delinsGAGA	ENSP00000493608.1:n.*1031-229_*1031-226delinsGAGA
ENST00000644319.1:n.1639-229_1639-226delinsGAGA
ENST00000645901.1:n.2115-229_2115-226delinsGAGA
ENST00000646391.1:c.*1034-229_*1034-226delinsGAGA	ENSP00000494104.1:n.*1034-229_*1034-226delinsGAGA
ENST00000646625.1:c.1264-229_1264-226delinsGAGA	ENSP00000496263.1:n.1264-229_1264-226delinsGAGA
ENST00000647279.1:c.*503-229_*503-226delinsGAGA	ENSP00000494502.1:n.*503-229_*503-226delinsGAGA
ENST00000647506.1:n.2140-229_2140-226delinsGAGA
ENST00000647534.1:n.328-229_328-226delinsGAGA
ENST00000298552.7:c.1264-229_1264-226delinsGAGA	ENSP00000298552.3:n.1264-229_1264-226delinsGAGA
ENST00000440111.6:c.1264-229_1264-226delinsGAGA	ENSP00000394524.2:n.1264-229_1264-226delinsGAGA
ENST00000545250.5:c.1111-229_1111-226delinsGAGA	ENSP00000444017.1:n.1111-229_1111-226delinsGAGA
NM_000368.4:c.1264-229_1264-226delinsGAGA , LRG_486t1:c.1264-229_1264-226delinsGAGA	NP_000359.1:n.1264-229_1264-226delinsGAGA
NM_001162426.1:c.1261-229_1261-226delinsGAGA	NP_001155898.1:n.1261-229_1261-226delinsGAGA
NM_001162427.1:c.1111-229_1111-226delinsGAGA	NP_001155899.1:n.1111-229_1111-226delinsGAGA
XM_005272211.1:c.1264-229_1264-226delinsGAGA	XP_005272268.1:n.1264-229_1264-226delinsGAGA
XM_006717271.1:c.1264-229_1264-226delinsGAGA	XP_006717334.1:n.1264-229_1264-226delinsGAGA
XM_006717272.2:c.1264-229_1264-226delinsGAGA	XP_006717335.1:n.1264-229_1264-226delinsGAGA
XM_011518979.1:c.1264-229_1264-226delinsGAGA	XP_011517281.1:n.1264-229_1264-226delinsGAGA
NM_001362177.1:c.901-229_901-226delinsGAGA	NP_001349106.1:n.901-229_901-226delinsGAGA
XM_011518979.2:c.1264-229_1264-226delinsGAGA	XP_011517281.1:n.1264-229_1264-226delinsGAGA
XM_017015096.1:c.1264-229_1264-226delinsGAGA	XP_016870585.1:n.1264-229_1264-226delinsGAGA
XM_017015097.1:c.1264-229_1264-226delinsGAGA	XP_016870586.1:n.1264-229_1264-226delinsGAGA
XM_017015098.1:c.1261-229_1261-226delinsGAGA	XP_016870587.1:n.1261-229_1261-226delinsGAGA
XM_017015100.1:c.901-229_901-226delinsGAGA	XP_016870589.1:n.901-229_901-226delinsGAGA
XM_017015101.1:c.898-229_898-226delinsGAGA	XP_016870590.1:n.898-229_898-226delinsGAGA
NM_000368.5:c.1264-229_1264-226delinsGAGA MANE Select	NP_000359.1:n.1264-229_1264-226delinsGAGA
NM_001162426.2:c.1261-229_1261-226delinsGAGA	NP_001155898.1:n.1261-229_1261-226delinsGAGA
NM_001162427.2:c.1111-229_1111-226delinsGAGA	NP_001155899.1:n.1111-229_1111-226delinsGAGA
NM_001362177.2:c.901-229_901-226delinsGAGA	NP_001349106.1:n.901-229_901-226delinsGAGA