Canonical Allele Identifier: CA16618772

Gene: TSC1

Linked Data

• ClinVar Variation Id: 423113
• ClinVar RCV Id: RCV000478998
• dbSNP Id: rs1064796237
• MyVariant Identifiers: chr9:g.135782168del (hg19) ; chr9:g.132906781del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132906785del , CM000671.2:g.132906785del	GRCh38
NC_000009.11:g.135782172del , CM000671.1:g.135782172del	GRCh37
NC_000009.10:g.134771993del	NCBI36
NG_012386.1:g.42853del , LRG_486:g.42853del

Transcript Alleles

HGVS	Amino-acid change
ENST00000475903.7:c.1385del	ENSP00000496126.2:p.Leu462Ter
ENST00000490179.4:c.1388del	ENSP00000495533.2:p.Leu463Ter
ENST00000642261.2:c.1388del	ENSP00000494743.2:p.Leu463Ter
ENST00000643275.2:c.1388del	ENSP00000495598.2:p.Leu463Ter
ENST00000643362.2:c.1001del	ENSP00000496398.2:p.Leu334Ter
ENST00000643625.2:c.1388del	ENSP00000495546.2:p.Leu463Ter
ENST00000643691.2:c.1025del	ENSP00000494916.2:p.Leu342Ter
ENST00000644184.2:c.1388del	ENSP00000495428.2:p.Leu463Ter
ENST00000645129.2:c.1232del	ENSP00000493639.2:p.Leu411Ter
ENST00000646440.2:c.1388del	ENSP00000495830.2:p.Leu463Ter
ENST00000298552.9:c.1388del MANE Select	ENSP00000298552.3:p.Leu463Ter
ENST00000642344.1:c.*1129del	ENSP00000494847.1:n.*1129del
ENST00000642617.1:c.1385del	ENSP00000493773.1:p.Leu462Ter
ENST00000642627.1:c.1385del	ENSP00000496772.1:p.Leu462Ter
ENST00000642811.1:c.*1158del	ENSP00000495554.1:n.*1158del
ENST00000643072.1:c.1235del	ENSP00000496691.1:p.Leu412Ter
ENST00000643362.1:c.1001del	ENSP00000496398.1:p.Leu334Ter
ENST00000643583.1:c.1388del	ENSP00000494685.1:p.Leu463Ter
ENST00000643875.1:c.1388del	ENSP00000495158.1:p.Leu463Ter
ENST00000644097.1:c.1385del	ENSP00000494682.1:p.Leu462Ter
ENST00000644184.1:c.125del	ENSP00000495428.1:p.Leu42Ter
ENST00000644255.1:c.*1155del	ENSP00000493608.1:n.*1155del
ENST00000644319.1:n.1763del
ENST00000645901.1:n.2239del
ENST00000646391.1:c.*1158del	ENSP00000494104.1:n.*1158del
ENST00000646625.1:c.1388del	ENSP00000496263.1:p.Leu463Ter
ENST00000647279.1:c.*627del	ENSP00000494502.1:n.*627del
ENST00000647506.1:n.2264del
ENST00000647534.1:n.452del
ENST00000298552.7:c.1388del	ENSP00000298552.3:p.Leu463Ter
ENST00000440111.6:c.1388del	ENSP00000394524.2:p.Leu463Ter
ENST00000545250.5:c.1235del	ENSP00000444017.1:p.Leu412Ter
NM_000368.4:c.1388del , LRG_486t1:c.1388del	NP_000359.1:p.Leu463Ter
NM_001162426.1:c.1385del	NP_001155898.1:p.Leu462Ter
NM_001162427.1:c.1235del	NP_001155899.1:p.Leu412Ter
XM_005272211.1:c.1388del	XP_005272268.1:p.Leu463Ter
XM_006717271.1:c.1388del	XP_006717334.1:p.Leu463Ter
XM_006717272.2:c.1388del	XP_006717335.1:p.Leu463Ter
XM_011518979.1:c.1388del	XP_011517281.1:p.Leu463Ter
NM_001362177.1:c.1025del	NP_001349106.1:p.Leu342Ter
XM_011518979.2:c.1388del	XP_011517281.1:p.Leu463Ter
XM_017015096.1:c.1388del	XP_016870585.1:p.Leu463Ter
XM_017015097.1:c.1388del	XP_016870586.1:p.Leu463Ter
XM_017015098.1:c.1385del	XP_016870587.1:p.Leu462Ter
XM_017015100.1:c.1025del	XP_016870589.1:p.Leu342Ter
XM_017015101.1:c.1022del	XP_016870590.1:p.Leu341Ter
NM_000368.5:c.1388del MANE Select	NP_000359.1:p.Leu463Ter
NM_001162426.2:c.1385del	NP_001155898.1:p.Leu462Ter
NM_001162427.2:c.1235del	NP_001155899.1:p.Leu412Ter
NM_001362177.2:c.1025del	NP_001349106.1:p.Leu342Ter