Canonical Allele Identifier: CA2695203322

Gene: TSC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132903751_132903767del , CM000671.2:g.132903751_132903767del	GRCh38
NC_000009.11:g.135779138_135779154del , CM000671.1:g.135779138_135779154del	GRCh37
NC_000009.10:g.134768959_134768975del	NCBI36
NG_012386.1:g.45869_45885del , LRG_486:g.45869_45885del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2091_2107del	ENSP00000496126.2:p.His698Ter
ENST00000490179.4:c.2094_2110del	ENSP00000495533.2:p.His699Ter
ENST00000642261.2:c.2094_2110del	ENSP00000494743.2:p.His699Ter
ENST00000643275.2:c.*34_*50del	ENSP00000495598.2:n.*34_*50del
ENST00000643362.2:c.1707_1723del	ENSP00000496398.2:p.His570Ter
ENST00000643625.2:c.2041+646_2041+662del	ENSP00000495546.2:n.2041+646_2041+662del
ENST00000643691.2:c.1731_1747del	ENSP00000494916.2:p.His578Ter
ENST00000644184.2:c.2094_2110del	ENSP00000495428.2:p.His699Ter
ENST00000645129.2:c.1938_1954del	ENSP00000493639.2:p.His647Ter
ENST00000646440.2:c.2094_2110del	ENSP00000495830.2:p.His699Ter
ENST00000298552.9:c.2094_2110del MANE Select	ENSP00000298552.3:p.His699Ter
ENST00000642261.1:c.158_174del
ENST00000642617.1:c.2091_2107del	ENSP00000493773.1:p.His698Ter
ENST00000642627.1:c.2076_2092del	ENSP00000496772.1:p.His693Ter
ENST00000642811.1:c.*1864_*1880del	ENSP00000495554.1:n.*1864_*1880del
ENST00000643072.1:c.1941_1957del	ENSP00000496691.1:p.His648Ter
ENST00000643275.1:c.568_584del	ENSP00000495598.1:n.568_584del
ENST00000643583.1:c.2079_2095del	ENSP00000494685.1:p.His694Ter
ENST00000643625.1:c.85+646_85+662del	ENSP00000495546.1:n.85+646_85+662del
ENST00000643875.1:c.2094_2110del	ENSP00000495158.1:p.His699Ter
ENST00000644097.1:c.2091_2107del	ENSP00000494682.1:p.His698Ter
ENST00000644184.1:c.831_847del	ENSP00000495428.1:p.His278Ter
ENST00000644255.1:c.*1861_*1877del	ENSP00000493608.1:n.*1861_*1877del
ENST00000644319.1:n.2469_2485del
ENST00000644882.1:n.1049_1065del
ENST00000645901.1:n.2945_2961del
ENST00000646391.1:c.*1864_*1880del	ENSP00000494104.1:n.*1864_*1880del
ENST00000646625.1:c.2094_2110del	ENSP00000496263.1:p.His699Ter
ENST00000647262.1:n.1059_1075del
ENST00000647279.1:c.*1333_*1349del	ENSP00000494502.1:n.*1333_*1349del
ENST00000647506.1:n.2970_2986del
ENST00000647534.1:n.1158_1174del
ENST00000298552.7:c.2094_2110del	ENSP00000298552.3:p.His699Ter
ENST00000440111.6:c.2094_2110del	ENSP00000394524.2:p.His699Ter
ENST00000545250.5:c.1941_1957del	ENSP00000444017.1:p.His648Ter
NM_000368.4:c.2094_2110del , LRG_486t1:c.2094_2110del	NP_000359.1:p.His699Ter
NM_001162426.1:c.2091_2107del	NP_001155898.1:p.His698Ter
NM_001162427.1:c.1941_1957del	NP_001155899.1:p.His648Ter
XM_005272211.1:c.2094_2110del	XP_005272268.1:p.His699Ter
XM_006717271.1:c.2094_2110del	XP_006717334.1:p.His699Ter
XM_011518979.1:c.2094_2110del	XP_011517281.1:p.His699Ter
NM_001362177.1:c.1731_1747del	NP_001349106.1:p.His578Ter
XM_011518979.2:c.2094_2110del	XP_011517281.1:p.His699Ter
XM_017015096.1:c.2094_2110del	XP_016870585.1:p.His699Ter
XM_017015097.1:c.2094_2110del	XP_016870586.1:p.His699Ter
XM_017015098.1:c.2091_2107del	XP_016870587.1:p.His698Ter
XM_017015100.1:c.1731_1747del	XP_016870589.1:p.His578Ter
XM_017015101.1:c.1728_1744del	XP_016870590.1:p.His577Ter
NM_000368.5:c.2094_2110del MANE Select	NP_000359.1:p.His699Ter
NM_001162426.2:c.2091_2107del	NP_001155898.1:p.His698Ter
NM_001162427.2:c.1941_1957del	NP_001155899.1:p.His648Ter
NM_001362177.2:c.1731_1747del	NP_001349106.1:p.His578Ter