Canonical Allele Identifier: CA2695203323

Gene: TSC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132903759_132903762del , CM000671.2:g.132903759_132903762del	GRCh38
NC_000009.11:g.135779146_135779149del , CM000671.1:g.135779146_135779149del	GRCh37
NC_000009.10:g.134768967_134768970del	NCBI36
NG_012386.1:g.45874_45877del , LRG_486:g.45874_45877del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2096_2099del	ENSP00000496126.2:p.Asn699SerfsTer23
ENST00000490179.4:c.2099_2102del	ENSP00000495533.2:p.Asn700SerfsTer23
ENST00000642261.2:c.2099_2102del	ENSP00000494743.2:p.Asn700SerfsTer23
ENST00000643275.2:c.*39_*42del	ENSP00000495598.2:n.*39_*42del
ENST00000643362.2:c.1712_1715del	ENSP00000496398.2:p.Asn571SerfsTer23
ENST00000643625.2:c.2041+651_2041+654del	ENSP00000495546.2:n.2041+651_2041+654del
ENST00000643691.2:c.1736_1739del	ENSP00000494916.2:p.Asn579SerfsTer23
ENST00000644184.2:c.2099_2102del	ENSP00000495428.2:p.Asn700SerfsTer23
ENST00000645129.2:c.1943_1946del	ENSP00000493639.2:p.Asn648SerfsTer23
ENST00000646440.2:c.2099_2102del	ENSP00000495830.2:p.Asn700SerfsTer23
ENST00000298552.9:c.2099_2102del MANE Select	ENSP00000298552.3:p.Asn700SerfsTer23
ENST00000642261.1:c.163_166del
ENST00000642617.1:c.2096_2099del	ENSP00000493773.1:p.Asn699SerfsTer23
ENST00000642627.1:c.2081_2084del	ENSP00000496772.1:p.Asn694SerfsTer23
ENST00000642811.1:c.*1869_*1872del	ENSP00000495554.1:n.*1869_*1872del
ENST00000643072.1:c.1946_1949del	ENSP00000496691.1:p.Asn649SerfsTer23
ENST00000643275.1:c.573_576del	ENSP00000495598.1:n.573_576del
ENST00000643583.1:c.2084_2087del	ENSP00000494685.1:p.Asn695SerfsTer23
ENST00000643625.1:c.85+651_85+654del	ENSP00000495546.1:n.85+651_85+654del
ENST00000643875.1:c.2099_2102del	ENSP00000495158.1:p.Asn700SerfsTer23
ENST00000644097.1:c.2096_2099del	ENSP00000494682.1:p.Asn699SerfsTer23
ENST00000644184.1:c.836_839del	ENSP00000495428.1:p.Asn279SerfsTer23
ENST00000644255.1:c.*1866_*1869del	ENSP00000493608.1:n.*1866_*1869del
ENST00000644319.1:n.2474_2477del
ENST00000644882.1:n.1054_1057del
ENST00000645901.1:n.2950_2953del
ENST00000646391.1:c.*1869_*1872del	ENSP00000494104.1:n.*1869_*1872del
ENST00000646625.1:c.2099_2102del	ENSP00000496263.1:p.Asn700SerfsTer23
ENST00000647262.1:n.1064_1067del
ENST00000647279.1:c.*1338_*1341del	ENSP00000494502.1:n.*1338_*1341del
ENST00000647506.1:n.2975_2978del
ENST00000647534.1:n.1163_1166del
ENST00000298552.7:c.2099_2102del	ENSP00000298552.3:p.Asn700SerfsTer23
ENST00000440111.6:c.2099_2102del	ENSP00000394524.2:p.Asn700SerfsTer23
ENST00000545250.5:c.1946_1949del	ENSP00000444017.1:p.Asn649SerfsTer23
NM_000368.4:c.2099_2102del , LRG_486t1:c.2099_2102del	NP_000359.1:p.Asn700SerfsTer23
NM_001162426.1:c.2096_2099del	NP_001155898.1:p.Asn699SerfsTer23
NM_001162427.1:c.1946_1949del	NP_001155899.1:p.Asn649SerfsTer23
XM_005272211.1:c.2099_2102del	XP_005272268.1:p.Asn700SerfsTer23
XM_006717271.1:c.2099_2102del	XP_006717334.1:p.Asn700SerfsTer23
XM_011518979.1:c.2099_2102del	XP_011517281.1:p.Asn700SerfsTer23
NM_001362177.1:c.1736_1739del	NP_001349106.1:p.Asn579SerfsTer23
XM_011518979.2:c.2099_2102del	XP_011517281.1:p.Asn700SerfsTer23
XM_017015096.1:c.2099_2102del	XP_016870585.1:p.Asn700SerfsTer23
XM_017015097.1:c.2099_2102del	XP_016870586.1:p.Asn700SerfsTer23
XM_017015098.1:c.2096_2099del	XP_016870587.1:p.Asn699SerfsTer23
XM_017015100.1:c.1736_1739del	XP_016870589.1:p.Asn579SerfsTer23
XM_017015101.1:c.1733_1736del	XP_016870590.1:p.Asn578SerfsTer23
NM_000368.5:c.2099_2102del MANE Select	NP_000359.1:p.Asn700SerfsTer23
NM_001162426.2:c.2096_2099del	NP_001155898.1:p.Asn699SerfsTer23
NM_001162427.2:c.1946_1949del	NP_001155899.1:p.Asn649SerfsTer23
NM_001362177.2:c.1736_1739del	NP_001349106.1:p.Asn579SerfsTer23