Canonical Allele Identifier: CA2695203318

Gene: TSC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132903709del , CM000671.2:g.132903709del	GRCh38
NC_000009.11:g.135779096del , CM000671.1:g.135779096del	GRCh37
NC_000009.10:g.134768917del	NCBI36
NG_012386.1:g.45926del , LRG_486:g.45926del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2148del	ENSP00000496126.2:p.Arg716SerfsTer7
ENST00000490179.4:c.2151del	ENSP00000495533.2:p.Arg717SerfsTer7
ENST00000642261.2:c.2151del	ENSP00000494743.2:p.Arg717SerfsTer7
ENST00000643275.2:c.*91del	ENSP00000495598.2:n.*91del
ENST00000643362.2:c.1764del	ENSP00000496398.2:p.Arg588SerfsTer7
ENST00000643625.2:c.2041+703del	ENSP00000495546.2:n.2041+703del
ENST00000643691.2:c.1788del	ENSP00000494916.2:p.Arg596SerfsTer7
ENST00000644184.2:c.2151del	ENSP00000495428.2:p.Arg717SerfsTer7
ENST00000645129.2:c.1995del	ENSP00000493639.2:p.Arg665SerfsTer7
ENST00000646440.2:c.2151del	ENSP00000495830.2:p.Arg717SerfsTer7
ENST00000298552.9:c.2151del MANE Select	ENSP00000298552.3:p.Arg717SerfsTer7
ENST00000642261.1:c.215del
ENST00000642617.1:c.2148del	ENSP00000493773.1:p.Arg716SerfsTer7
ENST00000642627.1:c.2133del	ENSP00000496772.1:p.Arg711SerfsTer7
ENST00000642811.1:c.*1921del	ENSP00000495554.1:n.*1921del
ENST00000643072.1:c.1998del	ENSP00000496691.1:p.Arg666SerfsTer7
ENST00000643275.1:c.625del	ENSP00000495598.1:n.625del
ENST00000643583.1:c.2136del	ENSP00000494685.1:p.Arg712SerfsTer7
ENST00000643625.1:c.85+703del	ENSP00000495546.1:n.85+703del
ENST00000643875.1:c.2151del	ENSP00000495158.1:p.Arg717SerfsTer7
ENST00000644097.1:c.2148del	ENSP00000494682.1:p.Arg716SerfsTer7
ENST00000644184.1:c.888del	ENSP00000495428.1:p.Arg296SerfsTer7
ENST00000644255.1:c.*1918del	ENSP00000493608.1:n.*1918del
ENST00000644319.1:n.2526del
ENST00000644882.1:n.1106del
ENST00000645901.1:n.3002del
ENST00000646391.1:c.*1921del	ENSP00000494104.1:n.*1921del
ENST00000646625.1:c.2151del	ENSP00000496263.1:p.Arg717SerfsTer7
ENST00000647262.1:n.1116del
ENST00000647279.1:c.*1390del	ENSP00000494502.1:n.*1390del
ENST00000647506.1:n.3027del
ENST00000647534.1:n.1215del
ENST00000298552.7:c.2151del	ENSP00000298552.3:p.Arg717SerfsTer7
ENST00000440111.6:c.2151del	ENSP00000394524.2:p.Arg717SerfsTer7
ENST00000545250.5:c.1998del	ENSP00000444017.1:p.Arg666SerfsTer7
NM_000368.4:c.2151del , LRG_486t1:c.2151del	NP_000359.1:p.Arg717SerfsTer7
NM_001162426.1:c.2148del	NP_001155898.1:p.Arg716SerfsTer7
NM_001162427.1:c.1998del	NP_001155899.1:p.Arg666SerfsTer7
XM_005272211.1:c.2151del	XP_005272268.1:p.Arg717SerfsTer7
XM_006717271.1:c.2151del	XP_006717334.1:p.Arg717SerfsTer7
XM_011518979.1:c.2151del	XP_011517281.1:p.Arg717SerfsTer7
NM_001362177.1:c.1788del	NP_001349106.1:p.Arg596SerfsTer7
XM_011518979.2:c.2151del	XP_011517281.1:p.Arg717SerfsTer7
XM_017015096.1:c.2151del	XP_016870585.1:p.Arg717SerfsTer7
XM_017015097.1:c.2151del	XP_016870586.1:p.Arg717SerfsTer7
XM_017015098.1:c.2148del	XP_016870587.1:p.Arg716SerfsTer7
XM_017015100.1:c.1788del	XP_016870589.1:p.Arg596SerfsTer7
XM_017015101.1:c.1785del	XP_016870590.1:p.Arg595SerfsTer7
NM_000368.5:c.2151del MANE Select	NP_000359.1:p.Arg717SerfsTer7
NM_001162426.2:c.2148del	NP_001155898.1:p.Arg716SerfsTer7
NM_001162427.2:c.1998del	NP_001155899.1:p.Arg666SerfsTer7
NM_001362177.2:c.1788del	NP_001349106.1:p.Arg596SerfsTer7