Canonical Allele Identifier: CA1882422093

Gene: TSC1

Linked Data

• dbSNP Id: rs1846601501
• gnomAD v4: 9-132922102-GGAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132922105_132922107del , CM000671.2:g.132922105_132922107del	GRCh38
NC_000009.11:g.135797492_135797494del , CM000671.1:g.135797492_135797494del	GRCh37
NC_000009.10:g.134787313_134787315del	NCBI36
NG_012386.1:g.27529_27531del , LRG_486:g.27529_27531del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.509-132_509-130del	ENSP00000496126.2:n.509-132_509-130del
ENST00000490179.4:c.509-132_509-130del	ENSP00000495533.2:n.509-132_509-130del
ENST00000642261.2:c.509-132_509-130del	ENSP00000494743.2:n.509-132_509-130del
ENST00000643275.2:c.509-132_509-130del	ENSP00000495598.2:n.509-132_509-130del
ENST00000643362.2:c.356-132_356-130del	ENSP00000496398.2:n.356-132_356-130del
ENST00000643625.2:c.509-132_509-130del	ENSP00000495546.2:n.509-132_509-130del
ENST00000643691.2:c.146-132_146-130del	ENSP00000494916.2:n.146-132_146-130del
ENST00000644184.2:c.509-132_509-130del	ENSP00000495428.2:n.509-132_509-130del
ENST00000645129.2:c.356-132_356-130del	ENSP00000493639.2:n.356-132_356-130del
ENST00000646440.2:c.509-132_509-130del	ENSP00000495830.2:n.509-132_509-130del
ENST00000647078.2:c.509-132_509-130del	ENSP00000496066.1:n.509-132_509-130del
ENST00000298552.9:c.509-132_509-130del MANE Select	ENSP00000298552.3:n.509-132_509-130del
ENST00000403810.6:c.509-132_509-130del	ENSP00000386093.1:n.509-132_509-130del
ENST00000475903.6:c.509-132_509-130del	ENSP00000496126.1:n.509-132_509-130del
ENST00000642344.1:c.*250-132_*250-130del	ENSP00000494847.1:n.*250-132_*250-130del
ENST00000642617.1:c.509-132_509-130del	ENSP00000493773.1:n.509-132_509-130del
ENST00000642627.1:c.509-132_509-130del	ENSP00000496772.1:n.509-132_509-130del
ENST00000642646.1:c.509-132_509-130del	ENSP00000496292.1:n.509-132_509-130del
ENST00000642745.1:c.509-132_509-130del	ENSP00000493963.1:n.509-132_509-130del
ENST00000642811.1:c.*279-132_*279-130del	ENSP00000495554.1:n.*279-132_*279-130del
ENST00000642854.1:c.*294-132_*294-130del	ENSP00000494639.1:n.*294-132_*294-130del
ENST00000643072.1:c.356-132_356-130del	ENSP00000496691.1:n.356-132_356-130del
ENST00000643362.1:c.356-132_356-130del	ENSP00000496398.1:n.356-132_356-130del
ENST00000643583.1:c.509-132_509-130del	ENSP00000494685.1:n.509-132_509-130del
ENST00000643691.1:c.146-132_146-130del	ENSP00000494916.1:n.146-132_146-130del
ENST00000643875.1:c.509-132_509-130del	ENSP00000495158.1:n.509-132_509-130del
ENST00000644097.1:c.509-132_509-130del	ENSP00000494682.1:n.509-132_509-130del
ENST00000644255.1:c.*279-132_*279-130del	ENSP00000493608.1:n.*279-132_*279-130del
ENST00000644997.1:c.*166-132_*166-130del	ENSP00000495654.1:n.*166-132_*166-130del
ENST00000645129.1:c.356-132_356-130del	ENSP00000493639.1:n.356-132_356-130del
ENST00000645150.1:c.509-132_509-130del	ENSP00000494365.1:n.509-132_509-130del
ENST00000645901.1:n.712-132_712-130del
ENST00000645904.1:n.2187-132_2187-130del
ENST00000646391.1:c.*279-132_*279-130del	ENSP00000494104.1:n.*279-132_*279-130del
ENST00000646625.1:c.509-132_509-130del	ENSP00000496263.1:n.509-132_509-130del
ENST00000647078.1:c.509-132_509-130del	ENSP00000496066.1:n.509-132_509-130del
ENST00000647279.1:c.509-132_509-130del	ENSP00000494502.1:n.509-132_509-130del
ENST00000647462.1:c.509-132_509-130del	ENSP00000495821.1:n.509-132_509-130del
ENST00000647506.1:n.737-132_737-130del
ENST00000298552.7:c.509-132_509-130del	ENSP00000298552.3:n.509-132_509-130del
ENST00000403810.5:c.509-132_509-130del	ENSP00000386093.1:n.509-132_509-130del
ENST00000440111.6:c.509-132_509-130del	ENSP00000394524.2:n.509-132_509-130del
ENST00000461879.5:n.338-132_338-130del
ENST00000475903.5:n.666-132_666-130del
ENST00000493467.5:n.705-132_705-130del
ENST00000545250.5:c.356-132_356-130del	ENSP00000444017.1:n.356-132_356-130del
NM_000368.4:c.509-132_509-130del , LRG_486t1:c.509-132_509-130del	NP_000359.1:n.509-132_509-130del
NM_001162426.1:c.509-132_509-130del	NP_001155898.1:n.509-132_509-130del
NM_001162427.1:c.356-132_356-130del	NP_001155899.1:n.356-132_356-130del
XM_005272211.1:c.509-132_509-130del	XP_005272268.1:n.509-132_509-130del
XM_006717271.1:c.509-132_509-130del	XP_006717334.1:n.509-132_509-130del
XM_006717272.2:c.509-132_509-130del	XP_006717335.1:n.509-132_509-130del
XM_011518979.1:c.509-132_509-130del	XP_011517281.1:n.509-132_509-130del
NM_001362177.1:c.146-132_146-130del	NP_001349106.1:n.146-132_146-130del
XM_011518979.2:c.509-132_509-130del	XP_011517281.1:n.509-132_509-130del
XM_017015096.1:c.509-132_509-130del	XP_016870585.1:n.509-132_509-130del
XM_017015097.1:c.509-132_509-130del	XP_016870586.1:n.509-132_509-130del
XM_017015098.1:c.509-132_509-130del	XP_016870587.1:n.509-132_509-130del
XM_017015100.1:c.146-132_146-130del	XP_016870589.1:n.146-132_146-130del
XM_017015101.1:c.146-132_146-130del	XP_016870590.1:n.146-132_146-130del
NM_000368.5:c.509-132_509-130del MANE Select	NP_000359.1:n.509-132_509-130del
NM_001162426.2:c.509-132_509-130del	NP_001155898.1:n.509-132_509-130del
NM_001162427.2:c.356-132_356-130del	NP_001155899.1:n.356-132_356-130del
NM_001362177.2:c.146-132_146-130del	NP_001349106.1:n.146-132_146-130del