Canonical Allele Identifier: CA2695203324

Gene: TSC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132903757dup , CM000671.2:g.132903757dup	GRCh38
NC_000009.11:g.135779144dup , CM000671.1:g.135779144dup	GRCh37
NC_000009.10:g.134768965dup	NCBI36
NG_012386.1:g.45877dup , LRG_486:g.45877dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2099dup	ENSP00000496126.2:p.Leu701ValfsTer4
ENST00000490179.4:c.2102dup	ENSP00000495533.2:p.Leu702ValfsTer4
ENST00000642261.2:c.2102dup	ENSP00000494743.2:p.Leu702ValfsTer4
ENST00000643275.2:c.*42dup	ENSP00000495598.2:n.*42dup
ENST00000643362.2:c.1715dup	ENSP00000496398.2:p.Leu573ValfsTer4
ENST00000643625.2:c.2041+654dup	ENSP00000495546.2:n.2041+654dup
ENST00000643691.2:c.1739dup	ENSP00000494916.2:p.Leu581ValfsTer4
ENST00000644184.2:c.2102dup	ENSP00000495428.2:p.Leu702ValfsTer4
ENST00000645129.2:c.1946dup	ENSP00000493639.2:p.Leu650ValfsTer4
ENST00000646440.2:c.2102dup	ENSP00000495830.2:p.Leu702ValfsTer4
ENST00000298552.9:c.2102dup MANE Select	ENSP00000298552.3:p.Leu702ValfsTer4
ENST00000642261.1:c.166dup
ENST00000642617.1:c.2099dup	ENSP00000493773.1:p.Leu701ValfsTer4
ENST00000642627.1:c.2084dup	ENSP00000496772.1:p.Leu696ValfsTer4
ENST00000642811.1:c.*1872dup	ENSP00000495554.1:n.*1872dup
ENST00000643072.1:c.1949dup	ENSP00000496691.1:p.Leu651ValfsTer4
ENST00000643275.1:c.576dup	ENSP00000495598.1:n.576dup
ENST00000643583.1:c.2087dup	ENSP00000494685.1:p.Leu697ValfsTer4
ENST00000643625.1:c.85+654dup	ENSP00000495546.1:n.85+654dup
ENST00000643875.1:c.2102dup	ENSP00000495158.1:p.Leu702ValfsTer4
ENST00000644097.1:c.2099dup	ENSP00000494682.1:p.Leu701ValfsTer4
ENST00000644184.1:c.839dup	ENSP00000495428.1:p.Leu281ValfsTer4
ENST00000644255.1:c.*1869dup	ENSP00000493608.1:n.*1869dup
ENST00000644319.1:n.2477dup
ENST00000644882.1:n.1057dup
ENST00000645901.1:n.2953dup
ENST00000646391.1:c.*1872dup	ENSP00000494104.1:n.*1872dup
ENST00000646625.1:c.2102dup	ENSP00000496263.1:p.Leu702ValfsTer4
ENST00000647262.1:n.1067dup
ENST00000647279.1:c.*1341dup	ENSP00000494502.1:n.*1341dup
ENST00000647506.1:n.2978dup
ENST00000647534.1:n.1166dup
ENST00000298552.7:c.2102dup	ENSP00000298552.3:p.Leu702ValfsTer4
ENST00000440111.6:c.2102dup	ENSP00000394524.2:p.Leu702ValfsTer4
ENST00000545250.5:c.1949dup	ENSP00000444017.1:p.Leu651ValfsTer4
NM_000368.4:c.2102dup , LRG_486t1:c.2102dup	NP_000359.1:p.Leu702ValfsTer4
NM_001162426.1:c.2099dup	NP_001155898.1:p.Leu701ValfsTer4
NM_001162427.1:c.1949dup	NP_001155899.1:p.Leu651ValfsTer4
XM_005272211.1:c.2102dup	XP_005272268.1:p.Leu702ValfsTer4
XM_006717271.1:c.2102dup	XP_006717334.1:p.Leu702ValfsTer4
XM_011518979.1:c.2102dup	XP_011517281.1:p.Leu702ValfsTer4
NM_001362177.1:c.1739dup	NP_001349106.1:p.Leu581ValfsTer4
XM_011518979.2:c.2102dup	XP_011517281.1:p.Leu702ValfsTer4
XM_017015096.1:c.2102dup	XP_016870585.1:p.Leu702ValfsTer4
XM_017015097.1:c.2102dup	XP_016870586.1:p.Leu702ValfsTer4
XM_017015098.1:c.2099dup	XP_016870587.1:p.Leu701ValfsTer4
XM_017015100.1:c.1739dup	XP_016870589.1:p.Leu581ValfsTer4
XM_017015101.1:c.1736dup	XP_016870590.1:p.Leu580ValfsTer4
NM_000368.5:c.2102dup MANE Select	NP_000359.1:p.Leu702ValfsTer4
NM_001162426.2:c.2099dup	NP_001155898.1:p.Leu701ValfsTer4
NM_001162427.2:c.1949dup	NP_001155899.1:p.Leu651ValfsTer4
NM_001362177.2:c.1739dup	NP_001349106.1:p.Leu581ValfsTer4