Canonical Allele Identifier: CA006092

Gene: TSC1

Linked Data

• ClinVar Variation Id: 48914
• ClinVar RCV Id: RCV000042165
• dbSNP Id: rs118203653
• MyVariant Identifiers: chr9:g.135779070_135779073del (hg19) ; chr9:g.132903683_132903686del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132903683_132903686del , CM000671.2:g.132903683_132903686del	GRCh38
NC_000009.11:g.135779070_135779073del , CM000671.1:g.135779070_135779073del	GRCh37
NC_000009.10:g.134768891_134768894del	NCBI36
NG_012386.1:g.45948_45951del , LRG_486:g.45948_45951del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2170_2173del	ENSP00000496126.2:p.Lys724GlnfsTer11
ENST00000490179.4:c.2173_2176del	ENSP00000495533.2:p.Lys725GlnfsTer11
ENST00000642261.2:c.2173_2176del	ENSP00000494743.2:p.Lys725GlnfsTer11
ENST00000643275.2:c.*113_*116del	ENSP00000495598.2:n.*113_*116del
ENST00000643362.2:c.1786_1789del	ENSP00000496398.2:p.Lys596GlnfsTer11
ENST00000643625.2:c.2041+725_2041+728del	ENSP00000495546.2:n.2041+725_2041+728del
ENST00000643691.2:c.1810_1813del	ENSP00000494916.2:p.Lys604GlnfsTer11
ENST00000644184.2:c.2173_2176del	ENSP00000495428.2:p.Lys725GlnfsTer11
ENST00000645129.2:c.2017_2020del	ENSP00000493639.2:p.Lys673GlnfsTer11
ENST00000646440.2:c.2173_2176del	ENSP00000495830.2:p.Lys725GlnfsTer11
ENST00000298552.9:c.2173_2176del MANE Select	ENSP00000298552.3:p.Lys725GlnfsTer11
ENST00000642261.1:c.237_240del
ENST00000642617.1:c.2170_2173del	ENSP00000493773.1:p.Lys724GlnfsTer11
ENST00000642627.1:c.2155_2158del	ENSP00000496772.1:p.Lys719GlnfsTer11
ENST00000642811.1:c.*1943_*1946del	ENSP00000495554.1:n.*1943_*1946del
ENST00000643072.1:c.2020_2023del	ENSP00000496691.1:p.Lys674GlnfsTer11
ENST00000643275.1:c.647_650del	ENSP00000495598.1:n.647_650del
ENST00000643583.1:c.2158_2161del	ENSP00000494685.1:p.Lys720GlnfsTer11
ENST00000643625.1:c.85+725_85+728del	ENSP00000495546.1:n.85+725_85+728del
ENST00000643875.1:c.2173_2176del	ENSP00000495158.1:p.Lys725GlnfsTer11
ENST00000644097.1:c.2170_2173del	ENSP00000494682.1:p.Lys724GlnfsTer11
ENST00000644184.1:c.910_913del	ENSP00000495428.1:p.Lys304GlnfsTer11
ENST00000644255.1:c.*1940_*1943del	ENSP00000493608.1:n.*1940_*1943del
ENST00000644319.1:n.2548_2551del
ENST00000644882.1:n.1128_1131del
ENST00000645901.1:n.3024_3027del
ENST00000646391.1:c.*1943_*1946del	ENSP00000494104.1:n.*1943_*1946del
ENST00000646625.1:c.2173_2176del	ENSP00000496263.1:p.Lys725GlnfsTer11
ENST00000647262.1:n.1138_1141del
ENST00000647279.1:c.*1412_*1415del	ENSP00000494502.1:n.*1412_*1415del
ENST00000647506.1:n.3049_3052del
ENST00000647534.1:n.1237_1240del
ENST00000298552.7:c.2173_2176del	ENSP00000298552.3:p.Lys725GlnfsTer11
ENST00000440111.6:c.2173_2176del	ENSP00000394524.2:p.Lys725GlnfsTer11
ENST00000545250.5:c.2020_2023del	ENSP00000444017.1:p.Lys674GlnfsTer11
NM_000368.4:c.2173_2176del , LRG_486t1:c.2173_2176del	NP_000359.1:p.Lys725GlnfsTer11
NM_001162426.1:c.2170_2173del	NP_001155898.1:p.Lys724GlnfsTer11
NM_001162427.1:c.2020_2023del	NP_001155899.1:p.Lys674GlnfsTer11
XM_005272211.1:c.2173_2176del	XP_005272268.1:p.Lys725GlnfsTer11
XM_006717271.1:c.2173_2176del	XP_006717334.1:p.Lys725GlnfsTer11
XM_011518979.1:c.2173_2176del	XP_011517281.1:p.Lys725GlnfsTer11
NM_001362177.1:c.1810_1813del	NP_001349106.1:p.Lys604GlnfsTer11
XM_011518979.2:c.2173_2176del	XP_011517281.1:p.Lys725GlnfsTer11
XM_017015096.1:c.2173_2176del	XP_016870585.1:p.Lys725GlnfsTer11
XM_017015097.1:c.2173_2176del	XP_016870586.1:p.Lys725GlnfsTer11
XM_017015098.1:c.2170_2173del	XP_016870587.1:p.Lys724GlnfsTer11
XM_017015100.1:c.1810_1813del	XP_016870589.1:p.Lys604GlnfsTer11
XM_017015101.1:c.1807_1810del	XP_016870590.1:p.Lys603GlnfsTer11
NM_000368.5:c.2173_2176del MANE Select	NP_000359.1:p.Lys725GlnfsTer11
NM_001162426.2:c.2170_2173del	NP_001155898.1:p.Lys724GlnfsTer11
NM_001162427.2:c.2020_2023del	NP_001155899.1:p.Lys674GlnfsTer11
NM_001362177.2:c.1810_1813del	NP_001349106.1:p.Lys604GlnfsTer11