Canonical Allele Identifier: CA891843353

Gene: TSC1

Linked Data

• ClinVar Variation Id: 570719
• ClinVar RCV Id: RCV000691650
• dbSNP Id: rs1564478705
• MyVariant Identifiers: chr9:g.135779140_135779141insAG (hg19) ; chr9:g.132903753_132903754insAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132903754_132903755insGA , CM000671.2:g.132903754_132903755insGA	GRCh38
NC_000009.11:g.135779141_135779142insGA , CM000671.1:g.135779141_135779142insGA	GRCh37
NC_000009.10:g.134768962_134768963insGA	NCBI36
NG_012386.1:g.45880_45881insCT , LRG_486:g.45880_45881insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2102_2103insCT	ENSP00000496126.2:p.Leu701PhefsTer23
ENST00000490179.4:c.2105_2106insCT	ENSP00000495533.2:p.Leu702PhefsTer23
ENST00000642261.2:c.2105_2106insCT	ENSP00000494743.2:p.Leu702PhefsTer23
ENST00000643275.2:c.*45_*46insCT	ENSP00000495598.2:n.*45_*46insCT
ENST00000643362.2:c.1718_1719insCT	ENSP00000496398.2:p.Leu573PhefsTer23
ENST00000643625.2:c.2041+657_2041+658insCT	ENSP00000495546.2:n.2041+657_2041+658insCT
ENST00000643691.2:c.1742_1743insCT	ENSP00000494916.2:p.Leu581PhefsTer23
ENST00000644184.2:c.2105_2106insCT	ENSP00000495428.2:p.Leu702PhefsTer23
ENST00000645129.2:c.1949_1950insCT	ENSP00000493639.2:p.Leu650PhefsTer23
ENST00000646440.2:c.2105_2106insCT	ENSP00000495830.2:p.Leu702PhefsTer23
ENST00000298552.9:c.2105_2106insCT MANE Select	ENSP00000298552.3:p.Leu702PhefsTer23
ENST00000642261.1:c.169_170insCT
ENST00000642617.1:c.2102_2103insCT	ENSP00000493773.1:p.Leu701PhefsTer23
ENST00000642627.1:c.2087_2088insCT	ENSP00000496772.1:p.Leu696PhefsTer23
ENST00000642811.1:c.*1875_*1876insCT	ENSP00000495554.1:n.*1875_*1876insCT
ENST00000643072.1:c.1952_1953insCT	ENSP00000496691.1:p.Leu651PhefsTer23
ENST00000643275.1:c.579_580insCT	ENSP00000495598.1:n.579_580insCT
ENST00000643583.1:c.2090_2091insCT	ENSP00000494685.1:p.Leu697PhefsTer23
ENST00000643625.1:c.85+657_85+658insCT	ENSP00000495546.1:n.85+657_85+658insCT
ENST00000643875.1:c.2105_2106insCT	ENSP00000495158.1:p.Leu702PhefsTer23
ENST00000644097.1:c.2102_2103insCT	ENSP00000494682.1:p.Leu701PhefsTer23
ENST00000644184.1:c.842_843insCT	ENSP00000495428.1:p.Leu281PhefsTer23
ENST00000644255.1:c.*1872_*1873insCT	ENSP00000493608.1:n.*1872_*1873insCT
ENST00000644319.1:n.2480_2481insCT
ENST00000644882.1:n.1060_1061insCT
ENST00000645901.1:n.2956_2957insCT
ENST00000646391.1:c.*1875_*1876insCT	ENSP00000494104.1:n.*1875_*1876insCT
ENST00000646625.1:c.2105_2106insCT	ENSP00000496263.1:p.Leu702PhefsTer23
ENST00000647262.1:n.1070_1071insCT
ENST00000647279.1:c.*1344_*1345insCT	ENSP00000494502.1:n.*1344_*1345insCT
ENST00000647506.1:n.2981_2982insCT
ENST00000647534.1:n.1169_1170insCT
ENST00000298552.7:c.2105_2106insCT	ENSP00000298552.3:p.Leu702PhefsTer23
ENST00000440111.6:c.2105_2106insCT	ENSP00000394524.2:p.Leu702PhefsTer23
ENST00000545250.5:c.1952_1953insCT	ENSP00000444017.1:p.Leu651PhefsTer23
NM_000368.4:c.2105_2106insCT , LRG_486t1:c.2105_2106insCT	NP_000359.1:p.Leu702PhefsTer23
NM_001162426.1:c.2102_2103insCT	NP_001155898.1:p.Leu701PhefsTer23
NM_001162427.1:c.1952_1953insCT	NP_001155899.1:p.Leu651PhefsTer23
XM_005272211.1:c.2105_2106insCT	XP_005272268.1:p.Leu702PhefsTer23
XM_006717271.1:c.2105_2106insCT	XP_006717334.1:p.Leu702PhefsTer23
XM_011518979.1:c.2105_2106insCT	XP_011517281.1:p.Leu702PhefsTer23
NM_001362177.1:c.1742_1743insCT	NP_001349106.1:p.Leu581PhefsTer23
XM_011518979.2:c.2105_2106insCT	XP_011517281.1:p.Leu702PhefsTer23
XM_017015096.1:c.2105_2106insCT	XP_016870585.1:p.Leu702PhefsTer23
XM_017015097.1:c.2105_2106insCT	XP_016870586.1:p.Leu702PhefsTer23
XM_017015098.1:c.2102_2103insCT	XP_016870587.1:p.Leu701PhefsTer23
XM_017015100.1:c.1742_1743insCT	XP_016870589.1:p.Leu581PhefsTer23
XM_017015101.1:c.1739_1740insCT	XP_016870590.1:p.Leu580PhefsTer23
NM_000368.5:c.2105_2106insCT MANE Select	NP_000359.1:p.Leu702PhefsTer23
NM_001162426.2:c.2102_2103insCT	NP_001155898.1:p.Leu701PhefsTer23
NM_001162427.2:c.1952_1953insCT	NP_001155899.1:p.Leu651PhefsTer23
NM_001362177.2:c.1742_1743insCT	NP_001349106.1:p.Leu581PhefsTer23