Canonical Allele Identifier: CA2651114601

Gene: TBCE

Linked Data

• gnomAD v4: 1-235437550-A-AGATGATCCACCCGCCTCGG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235437550_235437551insGATGATCCACCCGCCTCGG , CM000663.2:g.235437550_235437551insGATGATCCACCCGCCTCGG	GRCh38
NC_000001.10:g.235600865_235600866insGATGATCCACCCGCCTCGG , CM000663.1:g.235600865_235600866insGATGATCCACCCGCCTCGG	GRCh37
NC_000001.9:g.233667488_233667489insGATGATCCACCCGCCTCGG	NCBI36
NG_009230.1:g.75138_75139insGATGATCCACCCGCCTCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.927+76_927+77insGATGATCCACCCGCCTCGG	ENSP00000355560.4:n.927+76_927+77insGATGATCCACCCGCCTCGG
ENST00000406207.5:c.1116+76_1116+77insGATGATCCACCCGCCTCGG	ENSP00000384571.1:n.1116+76_1116+77insGATGATCCACCCGCCTCGG
ENST00000472011.6:n.1840+76_1840+77insGATGATCCACCCGCCTCGG
ENST00000543662.4:c.1269+76_1269+77insGATGATCCACCCGCCTCGG	ENSP00000439170.1:n.1269+76_1269+77insGATGATCCACCCGCCTCGG
ENST00000642339.1:c.*813+76_*813+77insGATGATCCACCCGCCTCGG	ENSP00000495425.1:n.*813+76_*813+77insGATGATCCACCCGCCTCGG
ENST00000642431.1:c.1693+76_1693+77insGATGATCCACCCGCCTCGG
ENST00000642463.1:c.*1014+76_*1014+77insGATGATCCACCCGCCTCGG	ENSP00000495007.1:n.*1014+76_*1014+77insGATGATCCACCCGCCTCGG
ENST00000642503.1:c.*890+76_*890+77insGATGATCCACCCGCCTCGG	ENSP00000494334.1:n.*890+76_*890+77insGATGATCCACCCGCCTCGG
ENST00000642610.2:c.1116+76_1116+77insGATGATCCACCCGCCTCGG MANE Select	ENSP00000494796.1:n.1116+76_1116+77insGATGATCCACCCGCCTCGG
ENST00000642764.1:n.1947+76_1947+77insGATGATCCACCCGCCTCGG
ENST00000643125.1:c.*131+76_*131+77insGATGATCCACCCGCCTCGG	ENSP00000494102.1:n.*131+76_*131+77insGATGATCCACCCGCCTCGG
ENST00000643142.1:c.*607+76_*607+77insGATGATCCACCCGCCTCGG	ENSP00000494755.1:n.*607+76_*607+77insGATGATCCACCCGCCTCGG
ENST00000643238.1:c.*136+76_*136+77insGATGATCCACCCGCCTCGG	ENSP00000495916.1:n.*136+76_*136+77insGATGATCCACCCGCCTCGG
ENST00000643410.1:c.*406+76_*406+77insGATGATCCACCCGCCTCGG	ENSP00000495030.1:n.*406+76_*406+77insGATGATCCACCCGCCTCGG
ENST00000643487.1:n.1803+76_1803+77insGATGATCCACCCGCCTCGG
ENST00000643524.1:c.*701+76_*701+77insGATGATCCACCCGCCTCGG	ENSP00000494026.1:n.*701+76_*701+77insGATGATCCACCCGCCTCGG
ENST00000643615.1:c.*1116+76_*1116+77insGATGATCCACCCGCCTCGG	ENSP00000496103.1:n.*1116+76_*1116+77insGATGATCCACCCGCCTCGG
ENST00000643993.1:n.1252+76_1252+77insGATGATCCACCCGCCTCGG
ENST00000643994.1:c.*1116+76_*1116+77insGATGATCCACCCGCCTCGG	ENSP00000496322.1:n.*1116+76_*1116+77insGATGATCCACCCGCCTCGG
ENST00000644037.1:c.*1326+76_*1326+77insGATGATCCACCCGCCTCGG	ENSP00000496408.1:n.*1326+76_*1326+77insGATGATCCACCCGCCTCGG
ENST00000644055.1:c.*1741+76_*1741+77insGATGATCCACCCGCCTCGG	ENSP00000496307.1:n.*1741+76_*1741+77insGATGATCCACCCGCCTCGG
ENST00000644126.1:n.2788+76_2788+77insGATGATCCACCCGCCTCGG
ENST00000644217.1:c.1116+76_1116+77insGATGATCCACCCGCCTCGG	ENSP00000494646.1:n.1116+76_1116+77insGATGATCCACCCGCCTCGG
ENST00000644265.1:c.485+76_485+77insGATGATCCACCCGCCTCGG
ENST00000644578.1:c.930+76_930+77insGATGATCCACCCGCCTCGG	ENSP00000495953.1:n.930+76_930+77insGATGATCCACCCGCCTCGG
ENST00000644604.1:c.1116+76_1116+77insGATGATCCACCCGCCTCGG	ENSP00000495961.1:n.1116+76_1116+77insGATGATCCACCCGCCTCGG
ENST00000644680.1:c.*1637+76_*1637+77insGATGATCCACCCGCCTCGG	ENSP00000496173.1:n.*1637+76_*1637+77insGATGATCCACCCGCCTCGG
ENST00000644838.1:c.*499+76_*499+77insGATGATCCACCCGCCTCGG	ENSP00000495910.1:n.*499+76_*499+77insGATGATCCACCCGCCTCGG
ENST00000644910.1:c.1723+76_1723+77insGATGATCCACCCGCCTCGG
ENST00000645205.1:c.1116+76_1116+77insGATGATCCACCCGCCTCGG	ENSP00000495823.1:n.1116+76_1116+77insGATGATCCACCCGCCTCGG
ENST00000645351.1:c.1116+76_1116+77insGATGATCCACCCGCCTCGG	ENSP00000494319.1:n.1116+76_1116+77insGATGATCCACCCGCCTCGG
ENST00000645551.1:c.*833+76_*833+77insGATGATCCACCCGCCTCGG	ENSP00000495928.1:n.*833+76_*833+77insGATGATCCACCCGCCTCGG
ENST00000645578.1:c.*890+76_*890+77insGATGATCCACCCGCCTCGG	ENSP00000496495.1:n.*890+76_*890+77insGATGATCCACCCGCCTCGG
ENST00000645582.1:c.*946+76_*946+77insGATGATCCACCCGCCTCGG	ENSP00000494980.1:n.*946+76_*946+77insGATGATCCACCCGCCTCGG
ENST00000645655.1:c.1116+76_1116+77insGATGATCCACCCGCCTCGG	ENSP00000495202.1:n.1116+76_1116+77insGATGATCCACCCGCCTCGG
ENST00000645662.1:c.*575+76_*575+77insGATGATCCACCCGCCTCGG	ENSP00000495964.1:n.*575+76_*575+77insGATGATCCACCCGCCTCGG
ENST00000645836.1:c.*890+76_*890+77insGATGATCCACCCGCCTCGG	ENSP00000493915.1:n.*890+76_*890+77insGATGATCCACCCGCCTCGG
ENST00000645899.1:c.1116+76_1116+77insGATGATCCACCCGCCTCGG	ENSP00000496773.1:n.1116+76_1116+77insGATGATCCACCCGCCTCGG
ENST00000645964.1:c.*982+76_*982+77insGATGATCCACCCGCCTCGG	ENSP00000494208.1:n.*982+76_*982+77insGATGATCCACCCGCCTCGG
ENST00000646104.1:c.*1584+76_*1584+77insGATGATCCACCCGCCTCGG	ENSP00000495475.1:n.*1584+76_*1584+77insGATGATCCACCCGCCTCGG
ENST00000646186.1:c.*788+76_*788+77insGATGATCCACCCGCCTCGG	ENSP00000493806.1:n.*788+76_*788+77insGATGATCCACCCGCCTCGG
ENST00000646286.1:c.*1009+76_*1009+77insGATGATCCACCCGCCTCGG	ENSP00000494291.1:n.*1009+76_*1009+77insGATGATCCACCCGCCTCGG
ENST00000646463.1:c.*881+76_*881+77insGATGATCCACCCGCCTCGG	ENSP00000494541.1:n.*881+76_*881+77insGATGATCCACCCGCCTCGG
ENST00000646528.1:c.*1832+76_*1832+77insGATGATCCACCCGCCTCGG	ENSP00000496553.1:n.*1832+76_*1832+77insGATGATCCACCCGCCTCGG
ENST00000646536.1:c.*406+76_*406+77insGATGATCCACCCGCCTCGG	ENSP00000494801.1:n.*406+76_*406+77insGATGATCCACCCGCCTCGG
ENST00000646624.1:c.1116+76_1116+77insGATGATCCACCCGCCTCGG	ENSP00000494575.1:n.1116+76_1116+77insGATGATCCACCCGCCTCGG
ENST00000646821.1:c.*406+76_*406+77insGATGATCCACCCGCCTCGG	ENSP00000495257.1:n.*406+76_*406+77insGATGATCCACCCGCCTCGG
ENST00000646842.1:n.560+76_560+77insGATGATCCACCCGCCTCGG
ENST00000646848.1:c.*331+76_*331+77insGATGATCCACCCGCCTCGG	ENSP00000495831.1:n.*331+76_*331+77insGATGATCCACCCGCCTCGG
ENST00000647186.1:c.1116+76_1116+77insGATGATCCACCCGCCTCGG	ENSP00000494775.1:n.1116+76_1116+77insGATGATCCACCCGCCTCGG
ENST00000647233.1:n.2096+76_2096+77insGATGATCCACCCGCCTCGG
ENST00000647322.1:c.707+76_707+77insGATGATCCACCCGCCTCGG
ENST00000647418.1:c.*890+76_*890+77insGATGATCCACCCGCCTCGG	ENSP00000493552.1:n.*890+76_*890+77insGATGATCCACCCGCCTCGG
ENST00000647428.1:c.777+76_777+77insGATGATCCACCCGCCTCGG	ENSP00000495630.1:n.777+76_777+77insGATGATCCACCCGCCTCGG
ENST00000651186.1:c.777+76_777+77insGATGATCCACCCGCCTCGG	ENSP00000498645.1:n.777+76_777+77insGATGATCCACCCGCCTCGG
ENST00000366601.7:c.1116+76_1116+77insGATGATCCACCCGCCTCGG	ENSP00000355560.3:n.1116+76_1116+77insGATGATCCACCCGCCTCGG
ENST00000406207.4:c.1116+76_1116+77insGATGATCCACCCGCCTCGG	ENSP00000384571.1:n.1116+76_1116+77insGATGATCCACCCGCCTCGG
ENST00000472011.5:n.1168+76_1168+77insGATGATCCACCCGCCTCGG
ENST00000543662.3:c.1269+76_1269+77insGATGATCCACCCGCCTCGG	ENSP00000439170.1:n.1269+76_1269+77insGATGATCCACCCGCCTCGG
NM_001079515.2:c.1116+76_1116+77insGATGATCCACCCGCCTCGG	NP_001072983.1:n.1116+76_1116+77insGATGATCCACCCGCCTCGG
NM_001287801.1:c.1269+76_1269+77insGATGATCCACCCGCCTCGG	NP_001274730.1:n.1269+76_1269+77insGATGATCCACCCGCCTCGG
NM_001287802.1:c.777+76_777+77insGATGATCCACCCGCCTCGG	NP_001274731.1:n.777+76_777+77insGATGATCCACCCGCCTCGG
NM_003193.4:c.1116+76_1116+77insGATGATCCACCCGCCTCGG	NP_003184.1:n.1116+76_1116+77insGATGATCCACCCGCCTCGG
NM_003193.5:c.1116+76_1116+77insGATGATCCACCCGCCTCGG MANE Select	NP_003184.1:n.1116+76_1116+77insGATGATCCACCCGCCTCGG
NM_001079515.3:c.1116+76_1116+77insGATGATCCACCCGCCTCGG	NP_001072983.1:n.1116+76_1116+77insGATGATCCACCCGCCTCGG
NM_001287801.2:c.1269+76_1269+77insGATGATCCACCCGCCTCGG	NP_001274730.1:n.1269+76_1269+77insGATGATCCACCCGCCTCGG
NM_001287802.2:c.777+76_777+77insGATGATCCACCCGCCTCGG	NP_001274731.1:n.777+76_777+77insGATGATCCACCCGCCTCGG