Canonical Allele Identifier: CA645557266

Gene: TSC1

Linked Data

• ClinVar Variation Id: 534418
• ClinVar RCV Id: RCV000641973 ; RCV002424442
• dbSNP Id: rs1554817252
• gnomAD v4: 9-132911056-CAGG-C
• COSMIC: COSM1460748
• MyVariant Identifiers: chr9:g.135786444_135786446del (hg19) ; chr9:g.132911057_132911059del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132911059_132911061del , CM000671.2:g.132911059_132911061del	GRCh38
NC_000009.11:g.135786446_135786448del , CM000671.1:g.135786446_135786448del	GRCh37
NC_000009.10:g.134776267_134776269del	NCBI36
NG_012386.1:g.38575_38577del , LRG_486:g.38575_38577del

Transcript Alleles

HGVS	Amino-acid change
ENST00000475903.7:c.1084_1086del	ENSP00000496126.2:p.Pro362del
ENST00000490179.4:c.1084_1086del	ENSP00000495533.2:p.Pro362del
ENST00000642261.2:c.1084_1086del	ENSP00000494743.2:p.Pro362del
ENST00000643275.2:c.1084_1086del	ENSP00000495598.2:p.Pro362del
ENST00000643362.2:c.876+394_876+396del	ENSP00000496398.2:n.876+394_876+396del
ENST00000643625.2:c.1084_1086del	ENSP00000495546.2:p.Pro362del
ENST00000643691.2:c.721_723del	ENSP00000494916.2:p.Pro241del
ENST00000644184.2:c.1084_1086del	ENSP00000495428.2:p.Pro362del
ENST00000645129.2:c.931_933del	ENSP00000493639.2:p.Pro311del
ENST00000646440.2:c.1084_1086del	ENSP00000495830.2:p.Pro362del
ENST00000647078.2:c.1127_1129del	ENSP00000496066.1:p.Ser376del
ENST00000298552.9:c.1084_1086del MANE Select	ENSP00000298552.3:p.Pro362del
ENST00000403810.6:c.*322_*324del	ENSP00000386093.1:n.*322_*324del
ENST00000493467.6:n.358_360del
ENST00000642344.1:c.*825_*827del	ENSP00000494847.1:n.*825_*827del
ENST00000642617.1:c.1084_1086del	ENSP00000493773.1:p.Pro362del
ENST00000642627.1:c.1084_1086del	ENSP00000496772.1:p.Pro362del
ENST00000642646.1:c.1084_1086del	ENSP00000496292.1:p.Pro362del
ENST00000642745.1:c.1084_1086del	ENSP00000493963.1:p.Pro362del
ENST00000642811.1:c.*854_*856del	ENSP00000495554.1:n.*854_*856del
ENST00000643072.1:c.931_933del	ENSP00000496691.1:p.Pro311del
ENST00000643362.1:c.876+394_876+396del	ENSP00000496398.1:n.876+394_876+396del
ENST00000643583.1:c.1084_1086del	ENSP00000494685.1:p.Pro362del
ENST00000643875.1:c.1084_1086del	ENSP00000495158.1:p.Pro362del
ENST00000644097.1:c.1084_1086del	ENSP00000494682.1:p.Pro362del
ENST00000644255.1:c.*854_*856del	ENSP00000493608.1:n.*854_*856del
ENST00000644319.1:n.1150_1152del
ENST00000644997.1:c.*741_*743del	ENSP00000495654.1:n.*741_*743del
ENST00000645129.1:c.931_933del	ENSP00000493639.1:p.Pro311del
ENST00000645150.1:c.1084_1086del	ENSP00000494365.1:p.Pro362del
ENST00000645901.1:n.1626_1628del
ENST00000646391.1:c.*854_*856del	ENSP00000494104.1:n.*854_*856del
ENST00000646625.1:c.1084_1086del	ENSP00000496263.1:p.Pro362del
ENST00000647078.1:c.1127_1129del	ENSP00000496066.1:p.Ser376del
ENST00000647279.1:c.*323_*325del	ENSP00000494502.1:n.*323_*325del
ENST00000647462.1:c.1084_1086del	ENSP00000495821.1:p.Pro362del
ENST00000647506.1:n.1651_1653del
ENST00000647534.1:n.148_150del
ENST00000298552.7:c.1084_1086del	ENSP00000298552.3:p.Pro362del
ENST00000440111.6:c.1084_1086del	ENSP00000394524.2:p.Pro362del
ENST00000493467.5:n.1280_1282del
ENST00000545250.5:c.931_933del	ENSP00000444017.1:p.Pro311del
NM_000368.4:c.1084_1086del , LRG_486t1:c.1084_1086del	NP_000359.1:p.Pro362del
NM_001162426.1:c.1084_1086del	NP_001155898.1:p.Pro362del
NM_001162427.1:c.931_933del	NP_001155899.1:p.Pro311del
XM_005272211.1:c.1084_1086del	XP_005272268.1:p.Pro362del
XM_006717271.1:c.1084_1086del	XP_006717334.1:p.Pro362del
XM_006717272.2:c.1084_1086del	XP_006717335.1:p.Pro362del
XM_011518979.1:c.1084_1086del	XP_011517281.1:p.Pro362del
NM_001362177.1:c.721_723del	NP_001349106.1:p.Pro241del
XM_011518979.2:c.1084_1086del	XP_011517281.1:p.Pro362del
XM_017015096.1:c.1084_1086del	XP_016870585.1:p.Pro362del
XM_017015097.1:c.1084_1086del	XP_016870586.1:p.Pro362del
XM_017015098.1:c.1084_1086del	XP_016870587.1:p.Pro362del
XM_017015100.1:c.721_723del	XP_016870589.1:p.Pro241del
XM_017015101.1:c.721_723del	XP_016870590.1:p.Pro241del
NM_000368.5:c.1084_1086del MANE Select	NP_000359.1:p.Pro362del
NM_001162426.2:c.1084_1086del	NP_001155898.1:p.Pro362del
NM_001162427.2:c.931_933del	NP_001155899.1:p.Pro311del
NM_001362177.2:c.721_723del	NP_001349106.1:p.Pro241del