Canonical Allele Identifier: CA860674262

Gene: TSC1

Linked Data

• dbSNP Id: rs1351112401
• gnomAD v3: 9-132907489-TTTC-T
• gnomAD v4: 9-132907489-TTTC-T
• MyVariant Identifiers: chr9:g.135782877_135782879del (hg19) ; chr9:g.132907490_132907492del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132907492_132907494del , CM000671.2:g.132907492_132907494del	GRCh38
NC_000009.11:g.135782879_135782881del , CM000671.1:g.135782879_135782881del	GRCh37
NC_000009.10:g.134772700_134772702del	NCBI36
NG_012386.1:g.42142_42144del , LRG_486:g.42142_42144del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.1261-122_1261-120del	ENSP00000496126.2:n.1261-122_1261-120del
ENST00000490179.4:c.1264-122_1264-120del	ENSP00000495533.2:n.1264-122_1264-120del
ENST00000642261.2:c.1264-122_1264-120del	ENSP00000494743.2:n.1264-122_1264-120del
ENST00000643275.2:c.1264-122_1264-120del	ENSP00000495598.2:n.1264-122_1264-120del
ENST00000643362.2:c.877-122_877-120del	ENSP00000496398.2:n.877-122_877-120del
ENST00000643625.2:c.1264-122_1264-120del	ENSP00000495546.2:n.1264-122_1264-120del
ENST00000643691.2:c.901-122_901-120del	ENSP00000494916.2:n.901-122_901-120del
ENST00000644184.2:c.1264-122_1264-120del	ENSP00000495428.2:n.1264-122_1264-120del
ENST00000645129.2:c.1108-122_1108-120del	ENSP00000493639.2:n.1108-122_1108-120del
ENST00000646440.2:c.1264-122_1264-120del	ENSP00000495830.2:n.1264-122_1264-120del
ENST00000298552.9:c.1264-122_1264-120del MANE Select	ENSP00000298552.3:n.1264-122_1264-120del
ENST00000642344.1:c.*1005-122_*1005-120del	ENSP00000494847.1:n.*1005-122_*1005-120del
ENST00000642617.1:c.1261-122_1261-120del	ENSP00000493773.1:n.1261-122_1261-120del
ENST00000642627.1:c.1261-122_1261-120del	ENSP00000496772.1:n.1261-122_1261-120del
ENST00000642811.1:c.*1034-122_*1034-120del	ENSP00000495554.1:n.*1034-122_*1034-120del
ENST00000643072.1:c.1111-122_1111-120del	ENSP00000496691.1:n.1111-122_1111-120del
ENST00000643362.1:c.877-122_877-120del	ENSP00000496398.1:n.877-122_877-120del
ENST00000643583.1:c.1264-122_1264-120del	ENSP00000494685.1:n.1264-122_1264-120del
ENST00000643875.1:c.1264-122_1264-120del	ENSP00000495158.1:n.1264-122_1264-120del
ENST00000644097.1:c.1261-122_1261-120del	ENSP00000494682.1:n.1261-122_1261-120del
ENST00000644255.1:c.*1031-122_*1031-120del	ENSP00000493608.1:n.*1031-122_*1031-120del
ENST00000644319.1:n.1639-122_1639-120del
ENST00000645901.1:n.2115-122_2115-120del
ENST00000646391.1:c.*1034-122_*1034-120del	ENSP00000494104.1:n.*1034-122_*1034-120del
ENST00000646625.1:c.1264-122_1264-120del	ENSP00000496263.1:n.1264-122_1264-120del
ENST00000647279.1:c.*503-122_*503-120del	ENSP00000494502.1:n.*503-122_*503-120del
ENST00000647506.1:n.2140-122_2140-120del
ENST00000647534.1:n.328-122_328-120del
ENST00000298552.7:c.1264-122_1264-120del	ENSP00000298552.3:n.1264-122_1264-120del
ENST00000440111.6:c.1264-122_1264-120del	ENSP00000394524.2:n.1264-122_1264-120del
ENST00000545250.5:c.1111-122_1111-120del	ENSP00000444017.1:n.1111-122_1111-120del
NM_000368.4:c.1264-122_1264-120del , LRG_486t1:c.1264-122_1264-120del	NP_000359.1:n.1264-122_1264-120del
NM_001162426.1:c.1261-122_1261-120del	NP_001155898.1:n.1261-122_1261-120del
NM_001162427.1:c.1111-122_1111-120del	NP_001155899.1:n.1111-122_1111-120del
XM_005272211.1:c.1264-122_1264-120del	XP_005272268.1:n.1264-122_1264-120del
XM_006717271.1:c.1264-122_1264-120del	XP_006717334.1:n.1264-122_1264-120del
XM_006717272.2:c.1264-122_1264-120del	XP_006717335.1:n.1264-122_1264-120del
XM_011518979.1:c.1264-122_1264-120del	XP_011517281.1:n.1264-122_1264-120del
NM_001362177.1:c.901-122_901-120del	NP_001349106.1:n.901-122_901-120del
XM_011518979.2:c.1264-122_1264-120del	XP_011517281.1:n.1264-122_1264-120del
XM_017015096.1:c.1264-122_1264-120del	XP_016870585.1:n.1264-122_1264-120del
XM_017015097.1:c.1264-122_1264-120del	XP_016870586.1:n.1264-122_1264-120del
XM_017015098.1:c.1261-122_1261-120del	XP_016870587.1:n.1261-122_1261-120del
XM_017015100.1:c.901-122_901-120del	XP_016870589.1:n.901-122_901-120del
XM_017015101.1:c.898-122_898-120del	XP_016870590.1:n.898-122_898-120del
NM_000368.5:c.1264-122_1264-120del MANE Select	NP_000359.1:n.1264-122_1264-120del
NM_001162426.2:c.1261-122_1261-120del	NP_001155898.1:n.1261-122_1261-120del
NM_001162427.2:c.1111-122_1111-120del	NP_001155899.1:n.1111-122_1111-120del
NM_001362177.2:c.901-122_901-120del	NP_001349106.1:n.901-122_901-120del