Canonical Allele Identifier: CA1882405889

Gene: TSC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132900744_132900745delinsGT , CM000671.2:g.132900744_132900745delinsGT	GRCh38
NC_000009.11:g.135776131_135776132delinsGT , CM000671.1:g.135776131_135776132delinsGT	GRCh37
NC_000009.10:g.134765952_134765953delinsGT	NCBI36
NG_012386.1:g.48889_48890delinsAC , LRG_486:g.48889_48890delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2592_2593delinsAC	ENSP00000496126.2:p.Gln864=
ENST00000490179.4:c.2595_2596delinsAC	ENSP00000495533.2:p.Gln865=
ENST00000642261.2:c.*374_*375delinsAC	ENSP00000494743.2:n.*374_*375delinsAC
ENST00000643275.2:c.*535_*536delinsAC	ENSP00000495598.2:n.*535_*536delinsAC
ENST00000643362.2:c.2208_2209delinsAC	ENSP00000496398.2:p.Gln736=
ENST00000643625.2:c.*337_*338delinsAC	ENSP00000495546.2:n.*337_*338delinsAC
ENST00000643691.2:c.2232_2233delinsAC	ENSP00000494916.2:p.Gln744=
ENST00000644184.2:c.2553_2554delinsAC	ENSP00000495428.2:p.Gln851=
ENST00000645129.2:c.2439_2440delinsAC	ENSP00000493639.2:p.Gln813=
ENST00000646440.2:c.2595_2596delinsAC	ENSP00000495830.2:p.Gln865=
ENST00000298552.9:c.2595_2596delinsAC MANE Select	ENSP00000298552.3:p.Gln865=
ENST00000642261.1:c.655_656delinsAC
ENST00000642617.1:c.2592_2593delinsAC	ENSP00000493773.1:p.Gln864=
ENST00000642627.1:c.2577_2578delinsAC	ENSP00000496772.1:p.Gln859=
ENST00000642811.1:c.*2365_*2366delinsAC	ENSP00000495554.1:n.*2365_*2366delinsAC
ENST00000643072.1:c.2442_2443delinsAC	ENSP00000496691.1:p.Gln814=
ENST00000643275.1:c.1069_1070delinsAC	ENSP00000495598.1:n.1069_1070delinsAC
ENST00000643583.1:c.2580_2581delinsAC	ENSP00000494685.1:p.Gln860=
ENST00000643625.1:c.472_473delinsAC	ENSP00000495546.1:n.472_473delinsAC
ENST00000643875.1:c.2595_2596delinsAC	ENSP00000495158.1:p.Gln865=
ENST00000644097.1:c.2592_2593delinsAC	ENSP00000494682.1:p.Gln864=
ENST00000644184.1:c.1290_1291delinsAC	ENSP00000495428.1:p.Gln430=
ENST00000644255.1:c.*2362_*2363delinsAC	ENSP00000493608.1:n.*2362_*2363delinsAC
ENST00000644319.1:n.2970_2971delinsAC
ENST00000644786.1:n.254_255delinsAC
ENST00000644882.1:n.1508_1509delinsAC
ENST00000645901.1:n.3446_3447delinsAC
ENST00000646391.1:c.*2365_*2366delinsAC	ENSP00000494104.1:n.*2365_*2366delinsAC
ENST00000646625.1:c.2595_2596delinsAC	ENSP00000496263.1:p.Gln865=
ENST00000647262.1:n.1560_1561delinsAC
ENST00000647279.1:c.*1834_*1835delinsAC	ENSP00000494502.1:n.*1834_*1835delinsAC
ENST00000647506.1:n.3471_3472delinsAC
ENST00000647534.1:n.1659_1660delinsAC
ENST00000298552.7:c.2595_2596delinsAC	ENSP00000298552.3:p.Gln865=
ENST00000440111.6:c.2595_2596delinsAC	ENSP00000394524.2:p.Gln865=
ENST00000545250.5:c.2442_2443delinsAC	ENSP00000444017.1:p.Gln814=
NM_000368.4:c.2595_2596delinsAC , LRG_486t1:c.2595_2596delinsAC	NP_000359.1:p.Gln865=
NM_001162426.1:c.2592_2593delinsAC	NP_001155898.1:p.Gln864=
NM_001162427.1:c.2442_2443delinsAC	NP_001155899.1:p.Gln814=
XM_005272211.1:c.2595_2596delinsAC	XP_005272268.1:p.Gln865=
XM_006717271.1:c.2595_2596delinsAC	XP_006717334.1:p.Gln865=
XM_011518979.1:c.2595_2596delinsAC	XP_011517281.1:p.Gln865=
NM_001362177.1:c.2232_2233delinsAC	NP_001349106.1:p.Gln744=
XM_011518979.2:c.2595_2596delinsAC	XP_011517281.1:p.Gln865=
XM_017015096.1:c.2595_2596delinsAC	XP_016870585.1:p.Gln865=
XM_017015097.1:c.2595_2596delinsAC	XP_016870586.1:p.Gln865=
XM_017015098.1:c.2592_2593delinsAC	XP_016870587.1:p.Gln864=
XM_017015100.1:c.2232_2233delinsAC	XP_016870589.1:p.Gln744=
XM_017015101.1:c.2229_2230delinsAC	XP_016870590.1:p.Gln743=
NM_000368.5:c.2595_2596delinsAC MANE Select	NP_000359.1:p.Gln865=
NM_001162426.2:c.2592_2593delinsAC	NP_001155898.1:p.Gln864=
NM_001162427.2:c.2442_2443delinsAC	NP_001155899.1:p.Gln814=
NM_001362177.2:c.2232_2233delinsAC	NP_001349106.1:p.Gln744=