Canonical Allele Identifier: CA1139661279

Gene: TSC1

Linked Data

• ClinVar Variation Id: 938312
• ClinVar RCV Id: RCV001207507

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132905722_132905723delinsTT , CM000671.2:g.132905722_132905723delinsTT	GRCh38
NC_000009.11:g.135781109_135781110delinsTT , CM000671.1:g.135781109_135781110delinsTT	GRCh37
NC_000009.10:g.134770930_134770931delinsTT	NCBI36
NG_012386.1:g.43911_43912delinsAA , LRG_486:g.43911_43912delinsAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000475903.7:c.1852_1853delinsAA	ENSP00000496126.2:p.Phe618Asn
ENST00000490179.4:c.1855_1856delinsAA	ENSP00000495533.2:p.Phe619Asn
ENST00000642261.2:c.1855_1856delinsAA	ENSP00000494743.2:p.Phe619Asn
ENST00000643275.2:c.1855_1856delinsAA	ENSP00000495598.2:p.Phe619Asn
ENST00000643362.2:c.1468_1469delinsAA	ENSP00000496398.2:p.Phe490Asn
ENST00000643625.2:c.1855_1856delinsAA	ENSP00000495546.2:p.Phe619Asn
ENST00000643691.2:c.1492_1493delinsAA	ENSP00000494916.2:p.Phe498Asn
ENST00000644184.2:c.1855_1856delinsAA	ENSP00000495428.2:p.Phe619Asn
ENST00000645129.2:c.1699_1700delinsAA	ENSP00000493639.2:p.Phe567Asn
ENST00000646440.2:c.1855_1856delinsAA	ENSP00000495830.2:p.Phe619Asn
ENST00000298552.9:c.1855_1856delinsAA MANE Select	ENSP00000298552.3:p.Phe619Asn
ENST00000642617.1:c.1852_1853delinsAA	ENSP00000493773.1:p.Phe618Asn
ENST00000642627.1:c.1852_1853delinsAA	ENSP00000496772.1:p.Phe618Asn
ENST00000642811.1:c.*1625_*1626delinsAA	ENSP00000495554.1:n.*1625_*1626delinsAA
ENST00000643072.1:c.1702_1703delinsAA	ENSP00000496691.1:p.Phe568Asn
ENST00000643275.1:c.373_374delinsAA	ENSP00000495598.1:p.Phe125Asn
ENST00000643583.1:c.1855_1856delinsAA	ENSP00000494685.1:p.Phe619Asn
ENST00000643875.1:c.1855_1856delinsAA	ENSP00000495158.1:p.Phe619Asn
ENST00000644097.1:c.1852_1853delinsAA	ENSP00000494682.1:p.Phe618Asn
ENST00000644184.1:c.592_593delinsAA	ENSP00000495428.1:p.Phe198Asn
ENST00000644255.1:c.*1622_*1623delinsAA	ENSP00000493608.1:n.*1622_*1623delinsAA
ENST00000644319.1:n.2230_2231delinsAA
ENST00000644882.1:n.810_811delinsAA
ENST00000645901.1:n.2706_2707delinsAA
ENST00000646391.1:c.*1625_*1626delinsAA	ENSP00000494104.1:n.*1625_*1626delinsAA
ENST00000646625.1:c.1855_1856delinsAA	ENSP00000496263.1:p.Phe619Asn
ENST00000647262.1:n.820_821delinsAA
ENST00000647279.1:c.*1094_*1095delinsAA	ENSP00000494502.1:n.*1094_*1095delinsAA
ENST00000647506.1:n.2731_2732delinsAA
ENST00000647534.1:n.919_920delinsAA
ENST00000298552.7:c.1855_1856delinsAA	ENSP00000298552.3:p.Phe619Asn
ENST00000440111.6:c.1855_1856delinsAA	ENSP00000394524.2:p.Phe619Asn
ENST00000545250.5:c.1702_1703delinsAA	ENSP00000444017.1:p.Phe568Asn
NM_000368.4:c.1855_1856delinsAA , LRG_486t1:c.1855_1856delinsAA	NP_000359.1:p.Phe619Asn
NM_001162426.1:c.1852_1853delinsAA	NP_001155898.1:p.Phe618Asn
NM_001162427.1:c.1702_1703delinsAA	NP_001155899.1:p.Phe568Asn
XM_005272211.1:c.1855_1856delinsAA	XP_005272268.1:p.Phe619Asn
XM_006717271.1:c.1855_1856delinsAA	XP_006717334.1:p.Phe619Asn
XM_006717272.2:c.1855_1856delinsAA	XP_006717335.1:p.Phe619Asn
XM_011518979.1:c.1855_1856delinsAA	XP_011517281.1:p.Phe619Asn
NM_001362177.1:c.1492_1493delinsAA	NP_001349106.1:p.Phe498Asn
XM_011518979.2:c.1855_1856delinsAA	XP_011517281.1:p.Phe619Asn
XM_017015096.1:c.1855_1856delinsAA	XP_016870585.1:p.Phe619Asn
XM_017015097.1:c.1855_1856delinsAA	XP_016870586.1:p.Phe619Asn
XM_017015098.1:c.1852_1853delinsAA	XP_016870587.1:p.Phe618Asn
XM_017015100.1:c.1492_1493delinsAA	XP_016870589.1:p.Phe498Asn
XM_017015101.1:c.1489_1490delinsAA	XP_016870590.1:p.Phe497Asn
NM_000368.5:c.1855_1856delinsAA MANE Select	NP_000359.1:p.Phe619Asn
NM_001162426.2:c.1852_1853delinsAA	NP_001155898.1:p.Phe618Asn
NM_001162427.2:c.1702_1703delinsAA	NP_001155899.1:p.Phe568Asn
NM_001362177.2:c.1492_1493delinsAA	NP_001349106.1:p.Phe498Asn