Canonical Allele Identifier: CA2695203312

Gene: TSC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132903659_132903660dup , CM000671.2:g.132903659_132903660dup	GRCh38
NC_000009.11:g.135779046_135779047dup , CM000671.1:g.135779046_135779047dup	GRCh37
NC_000009.10:g.134768867_134768868dup	NCBI36
NG_012386.1:g.45974_45975dup , LRG_486:g.45974_45975dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000475903.7:c.2196_2197dup	ENSP00000496126.2:p.Ala733ValfsTer4
ENST00000490179.4:c.2199_2200dup	ENSP00000495533.2:p.Ala734ValfsTer4
ENST00000642261.2:c.2199_2200dup	ENSP00000494743.2:p.Ala734ValfsTer4
ENST00000643275.2:c.*139_*140dup	ENSP00000495598.2:n.*139_*140dup
ENST00000643362.2:c.1812_1813dup	ENSP00000496398.2:p.Ala605ValfsTer4
ENST00000643625.2:c.2041+751_2041+752dup	ENSP00000495546.2:n.2041+751_2041+752dup
ENST00000643691.2:c.1836_1837dup	ENSP00000494916.2:p.Ala613ValfsTer4
ENST00000644184.2:c.2199_2200dup	ENSP00000495428.2:p.Ala734ValfsTer4
ENST00000645129.2:c.2043_2044dup	ENSP00000493639.2:p.Ala682ValfsTer4
ENST00000646440.2:c.2199_2200dup	ENSP00000495830.2:p.Ala734ValfsTer4
ENST00000298552.9:c.2199_2200dup MANE Select	ENSP00000298552.3:p.Ala734ValfsTer4
ENST00000642261.1:c.263_264dup
ENST00000642617.1:c.2196_2197dup	ENSP00000493773.1:p.Ala733ValfsTer4
ENST00000642627.1:c.2181_2182dup	ENSP00000496772.1:p.Ala728ValfsTer4
ENST00000642811.1:c.*1969_*1970dup	ENSP00000495554.1:n.*1969_*1970dup
ENST00000643072.1:c.2046_2047dup	ENSP00000496691.1:p.Ala683ValfsTer4
ENST00000643275.1:c.673_674dup	ENSP00000495598.1:n.673_674dup
ENST00000643583.1:c.2184_2185dup	ENSP00000494685.1:p.Ala729ValfsTer4
ENST00000643625.1:c.85+751_85+752dup	ENSP00000495546.1:n.85+751_85+752dup
ENST00000643875.1:c.2199_2200dup	ENSP00000495158.1:p.Ala734ValfsTer4
ENST00000644097.1:c.2196_2197dup	ENSP00000494682.1:p.Ala733ValfsTer4
ENST00000644184.1:c.936_937dup	ENSP00000495428.1:p.Ala313ValfsTer4
ENST00000644255.1:c.*1966_*1967dup	ENSP00000493608.1:n.*1966_*1967dup
ENST00000644319.1:n.2574_2575dup
ENST00000644882.1:n.1154_1155dup
ENST00000645901.1:n.3050_3051dup
ENST00000646391.1:c.*1969_*1970dup	ENSP00000494104.1:n.*1969_*1970dup
ENST00000646625.1:c.2199_2200dup	ENSP00000496263.1:p.Ala734ValfsTer4
ENST00000647262.1:n.1164_1165dup
ENST00000647279.1:c.*1438_*1439dup	ENSP00000494502.1:n.*1438_*1439dup
ENST00000647506.1:n.3075_3076dup
ENST00000647534.1:n.1263_1264dup
ENST00000298552.7:c.2199_2200dup	ENSP00000298552.3:p.Ala734ValfsTer4
ENST00000440111.6:c.2199_2200dup	ENSP00000394524.2:p.Ala734ValfsTer4
ENST00000545250.5:c.2046_2047dup	ENSP00000444017.1:p.Ala683ValfsTer4
NM_000368.4:c.2199_2200dup , LRG_486t1:c.2199_2200dup	NP_000359.1:p.Ala734ValfsTer4
NM_001162426.1:c.2196_2197dup	NP_001155898.1:p.Ala733ValfsTer4
NM_001162427.1:c.2046_2047dup	NP_001155899.1:p.Ala683ValfsTer4
XM_005272211.1:c.2199_2200dup	XP_005272268.1:p.Ala734ValfsTer4
XM_006717271.1:c.2199_2200dup	XP_006717334.1:p.Ala734ValfsTer4
XM_011518979.1:c.2199_2200dup	XP_011517281.1:p.Ala734ValfsTer4
NM_001362177.1:c.1836_1837dup	NP_001349106.1:p.Ala613ValfsTer4
XM_011518979.2:c.2199_2200dup	XP_011517281.1:p.Ala734ValfsTer4
XM_017015096.1:c.2199_2200dup	XP_016870585.1:p.Ala734ValfsTer4
XM_017015097.1:c.2199_2200dup	XP_016870586.1:p.Ala734ValfsTer4
XM_017015098.1:c.2196_2197dup	XP_016870587.1:p.Ala733ValfsTer4
XM_017015100.1:c.1836_1837dup	XP_016870589.1:p.Ala613ValfsTer4
XM_017015101.1:c.1833_1834dup	XP_016870590.1:p.Ala612ValfsTer4
NM_000368.5:c.2199_2200dup MANE Select	NP_000359.1:p.Ala734ValfsTer4
NM_001162426.2:c.2196_2197dup	NP_001155898.1:p.Ala733ValfsTer4
NM_001162427.2:c.2046_2047dup	NP_001155899.1:p.Ala683ValfsTer4
NM_001362177.2:c.1836_1837dup	NP_001349106.1:p.Ala613ValfsTer4