Canonical Allele Identifier: CA2720716515

Gene: TSC1

Linked Data

• dbSNP Id: rs2131756350

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132903655del , CM000671.2:g.132903655del	GRCh38
NC_000009.11:g.135779042del , CM000671.1:g.135779042del	GRCh37
NC_000009.10:g.134768863del	NCBI36
NG_012386.1:g.45980del , LRG_486:g.45980del

Transcript Alleles

HGVS	Amino-acid change
ENST00000475903.7:c.2202del	ENSP00000496126.2:p.Met735Ter
ENST00000490179.4:c.2205del	ENSP00000495533.2:p.Met736Ter
ENST00000642261.2:c.2205del	ENSP00000494743.2:p.Met736Ter
ENST00000643275.2:c.*145del	ENSP00000495598.2:n.*145del
ENST00000643362.2:c.1818del	ENSP00000496398.2:p.Met607Ter
ENST00000643625.2:c.2041+757del	ENSP00000495546.2:n.2041+757del
ENST00000643691.2:c.1842del	ENSP00000494916.2:p.Met615Ter
ENST00000644184.2:c.2205del	ENSP00000495428.2:p.Met736Ter
ENST00000645129.2:c.2049del	ENSP00000493639.2:p.Met684Ter
ENST00000646440.2:c.2205del	ENSP00000495830.2:p.Met736Ter
ENST00000298552.9:c.2205del MANE Select	ENSP00000298552.3:p.Met736Ter
ENST00000642261.1:c.269del
ENST00000642617.1:c.2202del	ENSP00000493773.1:p.Met735Ter
ENST00000642627.1:c.2187del	ENSP00000496772.1:p.Met730Ter
ENST00000642811.1:c.*1975del	ENSP00000495554.1:n.*1975del
ENST00000643072.1:c.2052del	ENSP00000496691.1:p.Met685Ter
ENST00000643275.1:c.679del	ENSP00000495598.1:n.679del
ENST00000643583.1:c.2190del	ENSP00000494685.1:p.Met731Ter
ENST00000643625.1:c.85+757del	ENSP00000495546.1:n.85+757del
ENST00000643875.1:c.2205del	ENSP00000495158.1:p.Met736Ter
ENST00000644097.1:c.2202del	ENSP00000494682.1:p.Met735Ter
ENST00000644184.1:c.942del	ENSP00000495428.1:p.Met315Ter
ENST00000644255.1:c.*1972del	ENSP00000493608.1:n.*1972del
ENST00000644319.1:n.2580del
ENST00000644882.1:n.1160del
ENST00000645901.1:n.3056del
ENST00000646391.1:c.*1975del	ENSP00000494104.1:n.*1975del
ENST00000646625.1:c.2205del	ENSP00000496263.1:p.Met736Ter
ENST00000647262.1:n.1170del
ENST00000647279.1:c.*1444del	ENSP00000494502.1:n.*1444del
ENST00000647506.1:n.3081del
ENST00000647534.1:n.1269del
ENST00000298552.7:c.2205del	ENSP00000298552.3:p.Met736Ter
ENST00000440111.6:c.2205del	ENSP00000394524.2:p.Met736Ter
ENST00000545250.5:c.2052del	ENSP00000444017.1:p.Met685Ter
NM_000368.4:c.2205del , LRG_486t1:c.2205del	NP_000359.1:p.Met736Ter
NM_001162426.1:c.2202del	NP_001155898.1:p.Met735Ter
NM_001162427.1:c.2052del	NP_001155899.1:p.Met685Ter
XM_005272211.1:c.2205del	XP_005272268.1:p.Met736Ter
XM_006717271.1:c.2205del	XP_006717334.1:p.Met736Ter
XM_011518979.1:c.2205del	XP_011517281.1:p.Met736Ter
NM_001362177.1:c.1842del	NP_001349106.1:p.Met615Ter
XM_011518979.2:c.2205del	XP_011517281.1:p.Met736Ter
XM_017015096.1:c.2205del	XP_016870585.1:p.Met736Ter
XM_017015097.1:c.2205del	XP_016870586.1:p.Met736Ter
XM_017015098.1:c.2202del	XP_016870587.1:p.Met735Ter
XM_017015100.1:c.1842del	XP_016870589.1:p.Met615Ter
XM_017015101.1:c.1839del	XP_016870590.1:p.Met614Ter
NM_000368.5:c.2205del MANE Select	NP_000359.1:p.Met736Ter
NM_001162426.2:c.2202del	NP_001155898.1:p.Met735Ter
NM_001162427.2:c.2052del	NP_001155899.1:p.Met685Ter
NM_001362177.2:c.1842del	NP_001349106.1:p.Met615Ter