Canonical Allele Identifier: CA1139661278

Gene: TSC1

Linked Data

• ClinVar Variation Id: 938973
• ClinVar RCV Id: RCV001208288
• dbSNP Id: rs1845617102

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132905720_132905721del , CM000671.2:g.132905720_132905721del	GRCh38
NC_000009.11:g.135781107_135781108del , CM000671.1:g.135781107_135781108del	GRCh37
NC_000009.10:g.134770928_134770929del	NCBI36
NG_012386.1:g.43914_43915del , LRG_486:g.43914_43915del

Transcript Alleles

HGVS	Amino-acid change
ENST00000475903.7:c.1855_1856del	ENSP00000496126.2:p.Val619HisfsTer5
ENST00000490179.4:c.1858_1859del	ENSP00000495533.2:p.Val620HisfsTer5
ENST00000642261.2:c.1858_1859del	ENSP00000494743.2:p.Val620HisfsTer5
ENST00000643275.2:c.1858_1859del	ENSP00000495598.2:p.Val620HisfsTer5
ENST00000643362.2:c.1471_1472del	ENSP00000496398.2:p.Val491HisfsTer5
ENST00000643625.2:c.1858_1859del	ENSP00000495546.2:p.Val620HisfsTer5
ENST00000643691.2:c.1495_1496del	ENSP00000494916.2:p.Val499HisfsTer5
ENST00000644184.2:c.1858_1859del	ENSP00000495428.2:p.Val620HisfsTer5
ENST00000645129.2:c.1702_1703del	ENSP00000493639.2:p.Val568HisfsTer5
ENST00000646440.2:c.1858_1859del	ENSP00000495830.2:p.Val620HisfsTer5
ENST00000298552.9:c.1858_1859del MANE Select	ENSP00000298552.3:p.Val620HisfsTer5
ENST00000642617.1:c.1855_1856del	ENSP00000493773.1:p.Val619HisfsTer5
ENST00000642627.1:c.1855_1856del	ENSP00000496772.1:p.Val619HisfsTer5
ENST00000642811.1:c.*1628_*1629del	ENSP00000495554.1:n.*1628_*1629del
ENST00000643072.1:c.1705_1706del	ENSP00000496691.1:p.Val569HisfsTer5
ENST00000643275.1:c.376_377del	ENSP00000495598.1:p.Val126HisfsTer5
ENST00000643583.1:c.1858_1859del	ENSP00000494685.1:p.Val620HisfsTer5
ENST00000643875.1:c.1858_1859del	ENSP00000495158.1:p.Val620HisfsTer5
ENST00000644097.1:c.1855_1856del	ENSP00000494682.1:p.Val619HisfsTer5
ENST00000644184.1:c.595_596del	ENSP00000495428.1:p.Val199HisfsTer5
ENST00000644255.1:c.*1625_*1626del	ENSP00000493608.1:n.*1625_*1626del
ENST00000644319.1:n.2233_2234del
ENST00000644882.1:n.813_814del
ENST00000645901.1:n.2709_2710del
ENST00000646391.1:c.*1628_*1629del	ENSP00000494104.1:n.*1628_*1629del
ENST00000646625.1:c.1858_1859del	ENSP00000496263.1:p.Val620HisfsTer5
ENST00000647262.1:n.823_824del
ENST00000647279.1:c.*1097_*1098del	ENSP00000494502.1:n.*1097_*1098del
ENST00000647506.1:n.2734_2735del
ENST00000647534.1:n.922_923del
ENST00000298552.7:c.1858_1859del	ENSP00000298552.3:p.Val620HisfsTer5
ENST00000440111.6:c.1858_1859del	ENSP00000394524.2:p.Val620HisfsTer5
ENST00000545250.5:c.1705_1706del	ENSP00000444017.1:p.Val569HisfsTer5
NM_000368.4:c.1858_1859del , LRG_486t1:c.1858_1859del	NP_000359.1:p.Val620HisfsTer5
NM_001162426.1:c.1855_1856del	NP_001155898.1:p.Val619HisfsTer5
NM_001162427.1:c.1705_1706del	NP_001155899.1:p.Val569HisfsTer5
XM_005272211.1:c.1858_1859del	XP_005272268.1:p.Val620HisfsTer5
XM_006717271.1:c.1858_1859del	XP_006717334.1:p.Val620HisfsTer5
XM_006717272.2:c.1858_1859del	XP_006717335.1:p.Val620HisfsTer5
XM_011518979.1:c.1858_1859del	XP_011517281.1:p.Val620HisfsTer5
NM_001362177.1:c.1495_1496del	NP_001349106.1:p.Val499HisfsTer5
XM_011518979.2:c.1858_1859del	XP_011517281.1:p.Val620HisfsTer5
XM_017015096.1:c.1858_1859del	XP_016870585.1:p.Val620HisfsTer5
XM_017015097.1:c.1858_1859del	XP_016870586.1:p.Val620HisfsTer5
XM_017015098.1:c.1855_1856del	XP_016870587.1:p.Val619HisfsTer5
XM_017015100.1:c.1495_1496del	XP_016870589.1:p.Val499HisfsTer5
XM_017015101.1:c.1492_1493del	XP_016870590.1:p.Val498HisfsTer5
NM_000368.5:c.1858_1859del MANE Select	NP_000359.1:p.Val620HisfsTer5
NM_001162426.2:c.1855_1856del	NP_001155898.1:p.Val619HisfsTer5
NM_001162427.2:c.1705_1706del	NP_001155899.1:p.Val569HisfsTer5
NM_001362177.2:c.1495_1496del	NP_001349106.1:p.Val499HisfsTer5