Canonical Allele Identifier: CA1882410840

Gene: TSC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132903702_132903703delinsGA , CM000671.2:g.132903702_132903703delinsGA	GRCh38
NC_000009.11:g.135779089_135779090delinsGA , CM000671.1:g.135779089_135779090delinsGA	GRCh37
NC_000009.10:g.134768910_134768911delinsGA	NCBI36
NG_012386.1:g.45931_45932delinsTC , LRG_486:g.45931_45932delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2153_2154delinsTC	ENSP00000496126.2:p.Leu718=
ENST00000490179.4:c.2156_2157delinsTC	ENSP00000495533.2:p.Leu719=
ENST00000642261.2:c.2156_2157delinsTC	ENSP00000494743.2:p.Leu719=
ENST00000643275.2:c.*96_*97delinsTC	ENSP00000495598.2:n.*96_*97delinsTC
ENST00000643362.2:c.1769_1770delinsTC	ENSP00000496398.2:p.Leu590=
ENST00000643625.2:c.2041+708_2041+709delinsTC	ENSP00000495546.2:n.2041+708_2041+709delinsTC
ENST00000643691.2:c.1793_1794delinsTC	ENSP00000494916.2:p.Leu598=
ENST00000644184.2:c.2156_2157delinsTC	ENSP00000495428.2:p.Leu719=
ENST00000645129.2:c.2000_2001delinsTC	ENSP00000493639.2:p.Leu667=
ENST00000646440.2:c.2156_2157delinsTC	ENSP00000495830.2:p.Leu719=
ENST00000298552.9:c.2156_2157delinsTC MANE Select	ENSP00000298552.3:p.Leu719=
ENST00000642261.1:c.220_221delinsTC
ENST00000642617.1:c.2153_2154delinsTC	ENSP00000493773.1:p.Leu718=
ENST00000642627.1:c.2138_2139delinsTC	ENSP00000496772.1:p.Leu713=
ENST00000642811.1:c.*1926_*1927delinsTC	ENSP00000495554.1:n.*1926_*1927delinsTC
ENST00000643072.1:c.2003_2004delinsTC	ENSP00000496691.1:p.Leu668=
ENST00000643275.1:c.630_631delinsTC	ENSP00000495598.1:n.630_631delinsTC
ENST00000643583.1:c.2141_2142delinsTC	ENSP00000494685.1:p.Leu714=
ENST00000643625.1:c.85+708_85+709delinsTC	ENSP00000495546.1:n.85+708_85+709delinsTC
ENST00000643875.1:c.2156_2157delinsTC	ENSP00000495158.1:p.Leu719=
ENST00000644097.1:c.2153_2154delinsTC	ENSP00000494682.1:p.Leu718=
ENST00000644184.1:c.893_894delinsTC	ENSP00000495428.1:p.Leu298=
ENST00000644255.1:c.*1923_*1924delinsTC	ENSP00000493608.1:n.*1923_*1924delinsTC
ENST00000644319.1:n.2531_2532delinsTC
ENST00000644882.1:n.1111_1112delinsTC
ENST00000645901.1:n.3007_3008delinsTC
ENST00000646391.1:c.*1926_*1927delinsTC	ENSP00000494104.1:n.*1926_*1927delinsTC
ENST00000646625.1:c.2156_2157delinsTC	ENSP00000496263.1:p.Leu719=
ENST00000647262.1:n.1121_1122delinsTC
ENST00000647279.1:c.*1395_*1396delinsTC	ENSP00000494502.1:n.*1395_*1396delinsTC
ENST00000647506.1:n.3032_3033delinsTC
ENST00000647534.1:n.1220_1221delinsTC
ENST00000298552.7:c.2156_2157delinsTC	ENSP00000298552.3:p.Leu719=
ENST00000440111.6:c.2156_2157delinsTC	ENSP00000394524.2:p.Leu719=
ENST00000545250.5:c.2003_2004delinsTC	ENSP00000444017.1:p.Leu668=
NM_000368.4:c.2156_2157delinsTC , LRG_486t1:c.2156_2157delinsTC	NP_000359.1:p.Leu719=
NM_001162426.1:c.2153_2154delinsTC	NP_001155898.1:p.Leu718=
NM_001162427.1:c.2003_2004delinsTC	NP_001155899.1:p.Leu668=
XM_005272211.1:c.2156_2157delinsTC	XP_005272268.1:p.Leu719=
XM_006717271.1:c.2156_2157delinsTC	XP_006717334.1:p.Leu719=
XM_011518979.1:c.2156_2157delinsTC	XP_011517281.1:p.Leu719=
NM_001362177.1:c.1793_1794delinsTC	NP_001349106.1:p.Leu598=
XM_011518979.2:c.2156_2157delinsTC	XP_011517281.1:p.Leu719=
XM_017015096.1:c.2156_2157delinsTC	XP_016870585.1:p.Leu719=
XM_017015097.1:c.2156_2157delinsTC	XP_016870586.1:p.Leu719=
XM_017015098.1:c.2153_2154delinsTC	XP_016870587.1:p.Leu718=
XM_017015100.1:c.1793_1794delinsTC	XP_016870589.1:p.Leu598=
XM_017015101.1:c.1790_1791delinsTC	XP_016870590.1:p.Leu597=
NM_000368.5:c.2156_2157delinsTC MANE Select	NP_000359.1:p.Leu719=
NM_001162426.2:c.2153_2154delinsTC	NP_001155898.1:p.Leu718=
NM_001162427.2:c.2003_2004delinsTC	NP_001155899.1:p.Leu668=
NM_001362177.2:c.1793_1794delinsTC	NP_001349106.1:p.Leu598=