Canonical Allele Identifier: CA2720718447

Gene: TSC1

Linked Data

• dbSNP Id: rs2131883337

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132907371del , CM000671.2:g.132907371del	GRCh38
NC_000009.11:g.135782758del , CM000671.1:g.135782758del	GRCh37
NC_000009.10:g.134772579del	NCBI36
NG_012386.1:g.42264del , LRG_486:g.42264del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.1261del
ENST00000490179.4:c.1264del
ENST00000642261.2:c.1264del
ENST00000643275.2:c.1264del
ENST00000643362.2:c.877del
ENST00000643625.2:c.1264del
ENST00000643691.2:c.901del
ENST00000644184.2:c.1264del
ENST00000645129.2:c.1108del
ENST00000646440.2:c.1264del
ENST00000298552.9:c.1264del
ENST00000642344.1:c.*1005del
ENST00000642617.1:c.1261del
ENST00000642627.1:c.1261del
ENST00000642811.1:c.*1034del
ENST00000643072.1:c.1111del
ENST00000643362.1:c.877del
ENST00000643583.1:c.1264del
ENST00000643875.1:c.1264del
ENST00000644097.1:c.1261del
ENST00000644255.1:c.*1031del
ENST00000644319.1:n.1639del
ENST00000645901.1:n.2115del
ENST00000646391.1:c.*1034del
ENST00000646625.1:c.1264del
ENST00000647279.1:c.*503del
ENST00000647506.1:n.2140del
ENST00000647534.1:n.328del
ENST00000298552.7:c.1264del
ENST00000440111.6:c.1264del
ENST00000545250.5:c.1111del
NM_000368.4:c.1264del , LRG_486t1:c.1264del
NM_001162426.1:c.1261del
NM_001162427.1:c.1111del
XM_005272211.1:c.1264del
XM_006717271.1:c.1264del
XM_006717272.2:c.1264del
XM_011518979.1:c.1264del
NM_001362177.1:c.901del
XM_011518979.2:c.1264del
XM_017015096.1:c.1264del
XM_017015097.1:c.1264del
XM_017015098.1:c.1261del
XM_017015100.1:c.901del
XM_017015101.1:c.898del
NM_000368.5:c.1264del
NM_001162426.2:c.1261del
NM_001162427.2:c.1111del
NM_001362177.2:c.901del