Canonical Allele Identifier: CA2695203300

Gene: TSC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132900741_132900745dup , CM000671.2:g.132900741_132900745dup	GRCh38
NC_000009.11:g.135776128_135776132dup , CM000671.1:g.135776128_135776132dup	GRCh37
NC_000009.10:g.134765949_134765953dup	NCBI36
NG_012386.1:g.48890_48894dup , LRG_486:g.48890_48894dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2593_2597dup	ENSP00000496126.2:p.Gln866HisfsTer13
ENST00000490179.4:c.2596_2600dup	ENSP00000495533.2:p.Gln867HisfsTer13
ENST00000642261.2:c.*375_*379dup	ENSP00000494743.2:n.*375_*379dup
ENST00000643275.2:c.*536_*540dup	ENSP00000495598.2:n.*536_*540dup
ENST00000643362.2:c.2209_2213dup	ENSP00000496398.2:p.Gln738HisfsTer13
ENST00000643625.2:c.*338_*342dup	ENSP00000495546.2:n.*338_*342dup
ENST00000643691.2:c.2233_2237dup	ENSP00000494916.2:p.Gln746HisfsTer13
ENST00000644184.2:c.2554_2558dup	ENSP00000495428.2:p.Gln853HisfsTer13
ENST00000645129.2:c.2440_2444dup	ENSP00000493639.2:p.Gln815HisfsTer13
ENST00000646440.2:c.2596_2600dup	ENSP00000495830.2:p.Gln867HisfsTer13
ENST00000298552.9:c.2596_2600dup MANE Select	ENSP00000298552.3:p.Gln867HisfsTer13
ENST00000642261.1:c.656_660dup
ENST00000642617.1:c.2593_2597dup	ENSP00000493773.1:p.Gln866HisfsTer13
ENST00000642627.1:c.2578_2582dup	ENSP00000496772.1:p.Gln861HisfsTer13
ENST00000642811.1:c.*2366_*2370dup	ENSP00000495554.1:n.*2366_*2370dup
ENST00000643072.1:c.2443_2447dup	ENSP00000496691.1:p.Gln816HisfsTer13
ENST00000643275.1:c.1070_1074dup	ENSP00000495598.1:n.1070_1074dup
ENST00000643583.1:c.2581_2585dup	ENSP00000494685.1:p.Gln862HisfsTer13
ENST00000643625.1:c.473_477dup	ENSP00000495546.1:n.473_477dup
ENST00000643875.1:c.2596_2600dup	ENSP00000495158.1:p.Gln867HisfsTer13
ENST00000644097.1:c.2593_2597dup	ENSP00000494682.1:p.Gln866HisfsTer13
ENST00000644184.1:c.1291_1295dup	ENSP00000495428.1:p.Gln432HisfsTer13
ENST00000644255.1:c.*2363_*2367dup	ENSP00000493608.1:n.*2363_*2367dup
ENST00000644319.1:n.2971_2975dup
ENST00000644786.1:n.255_259dup
ENST00000644882.1:n.1509_1513dup
ENST00000645901.1:n.3447_3451dup
ENST00000646391.1:c.*2366_*2370dup	ENSP00000494104.1:n.*2366_*2370dup
ENST00000646625.1:c.2596_2600dup	ENSP00000496263.1:p.Gln867HisfsTer13
ENST00000647262.1:n.1561_1565dup
ENST00000647279.1:c.*1835_*1839dup	ENSP00000494502.1:n.*1835_*1839dup
ENST00000647506.1:n.3472_3476dup
ENST00000647534.1:n.1660_1664dup
ENST00000298552.7:c.2596_2600dup	ENSP00000298552.3:p.Gln867HisfsTer13
ENST00000440111.6:c.2596_2600dup	ENSP00000394524.2:p.Gln867HisfsTer13
ENST00000545250.5:c.2443_2447dup	ENSP00000444017.1:p.Gln816HisfsTer13
NM_000368.4:c.2596_2600dup , LRG_486t1:c.2596_2600dup	NP_000359.1:p.Gln867HisfsTer13
NM_001162426.1:c.2593_2597dup	NP_001155898.1:p.Gln866HisfsTer13
NM_001162427.1:c.2443_2447dup	NP_001155899.1:p.Gln816HisfsTer13
XM_005272211.1:c.2596_2600dup	XP_005272268.1:p.Gln867HisfsTer13
XM_006717271.1:c.2596_2600dup	XP_006717334.1:p.Gln867HisfsTer13
XM_011518979.1:c.2596_2600dup	XP_011517281.1:p.Gln867HisfsTer13
NM_001362177.1:c.2233_2237dup	NP_001349106.1:p.Gln746HisfsTer13
XM_011518979.2:c.2596_2600dup	XP_011517281.1:p.Gln867HisfsTer13
XM_017015096.1:c.2596_2600dup	XP_016870585.1:p.Gln867HisfsTer13
XM_017015097.1:c.2596_2600dup	XP_016870586.1:p.Gln867HisfsTer13
XM_017015098.1:c.2593_2597dup	XP_016870587.1:p.Gln866HisfsTer13
XM_017015100.1:c.2233_2237dup	XP_016870589.1:p.Gln746HisfsTer13
XM_017015101.1:c.2230_2234dup	XP_016870590.1:p.Gln745HisfsTer13
NM_000368.5:c.2596_2600dup MANE Select	NP_000359.1:p.Gln867HisfsTer13
NM_001162426.2:c.2593_2597dup	NP_001155898.1:p.Gln866HisfsTer13
NM_001162427.2:c.2443_2447dup	NP_001155899.1:p.Gln816HisfsTer13
NM_001362177.2:c.2233_2237dup	NP_001349106.1:p.Gln746HisfsTer13