Canonical Allele Identifier: CA2692287484

Gene: TSC1

Linked Data

• gnomAD v4: 9-132907497-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132907505_132907506del , CM000671.2:g.132907505_132907506del	GRCh38
NC_000009.11:g.135782892_135782893del , CM000671.1:g.135782892_135782893del	GRCh37
NC_000009.10:g.134772713_134772714del	NCBI36
NG_012386.1:g.42135_42136del , LRG_486:g.42135_42136del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.1261-129_1261-128del	ENSP00000496126.2:n.1261-129_1261-128del
ENST00000490179.4:c.1264-129_1264-128del	ENSP00000495533.2:n.1264-129_1264-128del
ENST00000642261.2:c.1264-129_1264-128del	ENSP00000494743.2:n.1264-129_1264-128del
ENST00000643275.2:c.1264-129_1264-128del	ENSP00000495598.2:n.1264-129_1264-128del
ENST00000643362.2:c.877-129_877-128del	ENSP00000496398.2:n.877-129_877-128del
ENST00000643625.2:c.1264-129_1264-128del	ENSP00000495546.2:n.1264-129_1264-128del
ENST00000643691.2:c.901-129_901-128del	ENSP00000494916.2:n.901-129_901-128del
ENST00000644184.2:c.1264-129_1264-128del	ENSP00000495428.2:n.1264-129_1264-128del
ENST00000645129.2:c.1108-129_1108-128del	ENSP00000493639.2:n.1108-129_1108-128del
ENST00000646440.2:c.1264-129_1264-128del	ENSP00000495830.2:n.1264-129_1264-128del
ENST00000298552.9:c.1264-129_1264-128del MANE Select	ENSP00000298552.3:n.1264-129_1264-128del
ENST00000642344.1:c.*1005-129_*1005-128del	ENSP00000494847.1:n.*1005-129_*1005-128del
ENST00000642617.1:c.1261-129_1261-128del	ENSP00000493773.1:n.1261-129_1261-128del
ENST00000642627.1:c.1261-129_1261-128del	ENSP00000496772.1:n.1261-129_1261-128del
ENST00000642811.1:c.*1034-129_*1034-128del	ENSP00000495554.1:n.*1034-129_*1034-128del
ENST00000643072.1:c.1111-129_1111-128del	ENSP00000496691.1:n.1111-129_1111-128del
ENST00000643362.1:c.877-129_877-128del	ENSP00000496398.1:n.877-129_877-128del
ENST00000643583.1:c.1264-129_1264-128del	ENSP00000494685.1:n.1264-129_1264-128del
ENST00000643875.1:c.1264-129_1264-128del	ENSP00000495158.1:n.1264-129_1264-128del
ENST00000644097.1:c.1261-129_1261-128del	ENSP00000494682.1:n.1261-129_1261-128del
ENST00000644255.1:c.*1031-129_*1031-128del	ENSP00000493608.1:n.*1031-129_*1031-128del
ENST00000644319.1:n.1639-129_1639-128del
ENST00000645901.1:n.2115-129_2115-128del
ENST00000646391.1:c.*1034-129_*1034-128del	ENSP00000494104.1:n.*1034-129_*1034-128del
ENST00000646625.1:c.1264-129_1264-128del	ENSP00000496263.1:n.1264-129_1264-128del
ENST00000647279.1:c.*503-129_*503-128del	ENSP00000494502.1:n.*503-129_*503-128del
ENST00000647506.1:n.2140-129_2140-128del
ENST00000647534.1:n.328-129_328-128del
ENST00000298552.7:c.1264-129_1264-128del	ENSP00000298552.3:n.1264-129_1264-128del
ENST00000440111.6:c.1264-129_1264-128del	ENSP00000394524.2:n.1264-129_1264-128del
ENST00000545250.5:c.1111-129_1111-128del	ENSP00000444017.1:n.1111-129_1111-128del
NM_000368.4:c.1264-129_1264-128del , LRG_486t1:c.1264-129_1264-128del	NP_000359.1:n.1264-129_1264-128del
NM_001162426.1:c.1261-129_1261-128del	NP_001155898.1:n.1261-129_1261-128del
NM_001162427.1:c.1111-129_1111-128del	NP_001155899.1:n.1111-129_1111-128del
XM_005272211.1:c.1264-129_1264-128del	XP_005272268.1:n.1264-129_1264-128del
XM_006717271.1:c.1264-129_1264-128del	XP_006717334.1:n.1264-129_1264-128del
XM_006717272.2:c.1264-129_1264-128del	XP_006717335.1:n.1264-129_1264-128del
XM_011518979.1:c.1264-129_1264-128del	XP_011517281.1:n.1264-129_1264-128del
NM_001362177.1:c.901-129_901-128del	NP_001349106.1:n.901-129_901-128del
XM_011518979.2:c.1264-129_1264-128del	XP_011517281.1:n.1264-129_1264-128del
XM_017015096.1:c.1264-129_1264-128del	XP_016870585.1:n.1264-129_1264-128del
XM_017015097.1:c.1264-129_1264-128del	XP_016870586.1:n.1264-129_1264-128del
XM_017015098.1:c.1261-129_1261-128del	XP_016870587.1:n.1261-129_1261-128del
XM_017015100.1:c.901-129_901-128del	XP_016870589.1:n.901-129_901-128del
XM_017015101.1:c.898-129_898-128del	XP_016870590.1:n.898-129_898-128del
NM_000368.5:c.1264-129_1264-128del MANE Select	NP_000359.1:n.1264-129_1264-128del
NM_001162426.2:c.1261-129_1261-128del	NP_001155898.1:n.1261-129_1261-128del
NM_001162427.2:c.1111-129_1111-128del	NP_001155899.1:n.1111-129_1111-128del
NM_001362177.2:c.901-129_901-128del	NP_001349106.1:n.901-129_901-128del