Canonical Allele Identifier: CA005963

Gene: TSC1

Linked Data

• ClinVar Variation Id: 64722
• ClinVar RCV Id: RCV000054900
• dbSNP Id: rs397514791
• MyVariant Identifiers: chr9:g.135779139_135779145del (hg19) ; chr9:g.132903752_132903758del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132903754_132903760del , CM000671.2:g.132903754_132903760del	GRCh38
NC_000009.11:g.135779141_135779147del , CM000671.1:g.135779141_135779147del	GRCh37
NC_000009.10:g.134768962_134768968del	NCBI36
NG_012386.1:g.45876_45882del , LRG_486:g.45876_45882del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2098_2104del	ENSP00000496126.2:p.Gln700SerfsTer21
ENST00000490179.4:c.2101_2107del	ENSP00000495533.2:p.Gln701SerfsTer21
ENST00000642261.2:c.2101_2107del	ENSP00000494743.2:p.Gln701SerfsTer21
ENST00000643275.2:c.*41_*47del	ENSP00000495598.2:n.*41_*47del
ENST00000643362.2:c.1714_1720del	ENSP00000496398.2:p.Gln572SerfsTer21
ENST00000643625.2:c.2041+653_2041+659del	ENSP00000495546.2:n.2041+653_2041+659del
ENST00000643691.2:c.1738_1744del	ENSP00000494916.2:p.Gln580SerfsTer21
ENST00000644184.2:c.2101_2107del	ENSP00000495428.2:p.Gln701SerfsTer21
ENST00000645129.2:c.1945_1951del	ENSP00000493639.2:p.Gln649SerfsTer21
ENST00000646440.2:c.2101_2107del	ENSP00000495830.2:p.Gln701SerfsTer21
ENST00000298552.9:c.2101_2107del MANE Select	ENSP00000298552.3:p.Gln701SerfsTer21
ENST00000642261.1:c.165_171del
ENST00000642617.1:c.2098_2104del	ENSP00000493773.1:p.Gln700SerfsTer21
ENST00000642627.1:c.2083_2089del	ENSP00000496772.1:p.Gln695SerfsTer21
ENST00000642811.1:c.*1871_*1877del	ENSP00000495554.1:n.*1871_*1877del
ENST00000643072.1:c.1948_1954del	ENSP00000496691.1:p.Gln650SerfsTer21
ENST00000643275.1:c.575_581del	ENSP00000495598.1:n.575_581del
ENST00000643583.1:c.2086_2092del	ENSP00000494685.1:p.Gln696SerfsTer21
ENST00000643625.1:c.85+653_85+659del	ENSP00000495546.1:n.85+653_85+659del
ENST00000643875.1:c.2101_2107del	ENSP00000495158.1:p.Gln701SerfsTer21
ENST00000644097.1:c.2098_2104del	ENSP00000494682.1:p.Gln700SerfsTer21
ENST00000644184.1:c.838_844del	ENSP00000495428.1:p.Gln280SerfsTer21
ENST00000644255.1:c.*1868_*1874del	ENSP00000493608.1:n.*1868_*1874del
ENST00000644319.1:n.2476_2482del
ENST00000644882.1:n.1056_1062del
ENST00000645901.1:n.2952_2958del
ENST00000646391.1:c.*1871_*1877del	ENSP00000494104.1:n.*1871_*1877del
ENST00000646625.1:c.2101_2107del	ENSP00000496263.1:p.Gln701SerfsTer21
ENST00000647262.1:n.1066_1072del
ENST00000647279.1:c.*1340_*1346del	ENSP00000494502.1:n.*1340_*1346del
ENST00000647506.1:n.2977_2983del
ENST00000647534.1:n.1165_1171del
ENST00000298552.7:c.2101_2107del	ENSP00000298552.3:p.Gln701SerfsTer21
ENST00000440111.6:c.2101_2107del	ENSP00000394524.2:p.Gln701SerfsTer21
ENST00000545250.5:c.1948_1954del	ENSP00000444017.1:p.Gln650SerfsTer21
NM_000368.4:c.2101_2107del , LRG_486t1:c.2101_2107del	NP_000359.1:p.Gln701SerfsTer21
NM_001162426.1:c.2098_2104del	NP_001155898.1:p.Gln700SerfsTer21
NM_001162427.1:c.1948_1954del	NP_001155899.1:p.Gln650SerfsTer21
XM_005272211.1:c.2101_2107del	XP_005272268.1:p.Gln701SerfsTer21
XM_006717271.1:c.2101_2107del	XP_006717334.1:p.Gln701SerfsTer21
XM_011518979.1:c.2101_2107del	XP_011517281.1:p.Gln701SerfsTer21
NM_001362177.1:c.1738_1744del	NP_001349106.1:p.Gln580SerfsTer21
XM_011518979.2:c.2101_2107del	XP_011517281.1:p.Gln701SerfsTer21
XM_017015096.1:c.2101_2107del	XP_016870585.1:p.Gln701SerfsTer21
XM_017015097.1:c.2101_2107del	XP_016870586.1:p.Gln701SerfsTer21
XM_017015098.1:c.2098_2104del	XP_016870587.1:p.Gln700SerfsTer21
XM_017015100.1:c.1738_1744del	XP_016870589.1:p.Gln580SerfsTer21
XM_017015101.1:c.1735_1741del	XP_016870590.1:p.Gln579SerfsTer21
NM_000368.5:c.2101_2107del MANE Select	NP_000359.1:p.Gln701SerfsTer21
NM_001162426.2:c.2098_2104del	NP_001155898.1:p.Gln700SerfsTer21
NM_001162427.2:c.1948_1954del	NP_001155899.1:p.Gln650SerfsTer21
NM_001362177.2:c.1738_1744del	NP_001349106.1:p.Gln580SerfsTer21