Canonical Allele Identifier: CA39588174
Community Standard Title: NM_003193.5(TBCE):c.964-173_964-169del
Gene: TBCE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235437149_235437153del , CM000663.2:g.235437149_235437153del GRCh38
NC_000001.10:g.235600464_235600468del , CM000663.1:g.235600464_235600468del GRCh37
NC_000001.9:g.233667087_233667091del NCBI36
NG_009230.1:g.74737_74741del

Transcript Alleles

HGVS Amino-acid Change
NM_003193.5:c.964-173_964-169del MANE Select NP_003184.1:n.964-173_964-169del
ENST00000642610.2:c.964-173_964-169del MANE Select ENSP00000494796.1:n.964-173_964-169del
NM_001079515.2:c.964-173_964-169del NP_001072983.1:n.964-173_964-169del
NM_001079515.3:c.964-173_964-169del NP_001072983.1:n.964-173_964-169del
NM_001287801.1:c.1117-173_1117-169del NP_001274730.1:n.1117-173_1117-169del
NM_001287801.2:c.1117-173_1117-169del NP_001274730.1:n.1117-173_1117-169del
NM_001287802.1:c.625-173_625-169del NP_001274731.1:n.625-173_625-169del
NM_001287802.2:c.625-173_625-169del NP_001274731.1:n.625-173_625-169del
NM_003193.4:c.964-173_964-169del NP_003184.1:n.964-173_964-169del
ENST00000366601.7:c.964-173_964-169del ENSP00000355560.3:n.964-173_964-169del
ENST00000366601.8:c.775-173_775-169del ENSP00000355560.4:n.775-173_775-169del
ENST00000406207.4:c.964-173_964-169del ENSP00000384571.1:n.964-173_964-169del
ENST00000406207.5:c.964-173_964-169del ENSP00000384571.1:n.964-173_964-169del
ENST00000472011.5:n.1016-173_1016-169del
ENST00000472011.6:n.1688-173_1688-169del
ENST00000543662.3:c.1117-173_1117-169del ENSP00000439170.1:n.1117-173_1117-169del
ENST00000543662.4:c.1117-173_1117-169del ENSP00000439170.1:n.1117-173_1117-169del
ENST00000642339.1:c.*661-173_*661-169del ENSP00000495425.1:n.*661-173_*661-169del
ENST00000642431.1:c.1541-173_1541-169del
ENST00000642463.1:c.*862-173_*862-169del ENSP00000495007.1:n.*862-173_*862-169del
ENST00000642503.1:c.*738-173_*738-169del ENSP00000494334.1:n.*738-173_*738-169del
ENST00000642764.1:n.1795-173_1795-169del
ENST00000643125.1:c.738-173_738-169del ENSP00000494102.1:n.738-173_738-169del
ENST00000643142.1:c.*455-173_*455-169del ENSP00000494755.1:n.*455-173_*455-169del
ENST00000643238.1:c.638-173_638-169del ENSP00000495916.1:n.638-173_638-169del
ENST00000643410.1:c.*254-173_*254-169del ENSP00000495030.1:n.*254-173_*254-169del
ENST00000643487.1:n.1651-173_1651-169del
ENST00000643524.1:c.*549-173_*549-169del ENSP00000494026.1:n.*549-173_*549-169del
ENST00000643615.1:c.*964-173_*964-169del ENSP00000496103.1:n.*964-173_*964-169del
ENST00000643993.1:n.1100-173_1100-169del
ENST00000643994.1:c.*964-173_*964-169del ENSP00000496322.1:n.*964-173_*964-169del
ENST00000644037.1:c.*1174-173_*1174-169del ENSP00000496408.1:n.*1174-173_*1174-169del
ENST00000644055.1:c.*1589-173_*1589-169del ENSP00000496307.1:n.*1589-173_*1589-169del
ENST00000644126.1:n.2636-173_2636-169del
ENST00000644217.1:c.964-173_964-169del ENSP00000494646.1:n.964-173_964-169del
ENST00000644265.1:c.333-173_333-169del
ENST00000644578.1:c.778-173_778-169del ENSP00000495953.1:n.778-173_778-169del
ENST00000644604.1:c.964-173_964-169del ENSP00000495961.1:n.964-173_964-169del
ENST00000644680.1:c.*1485-173_*1485-169del ENSP00000496173.1:n.*1485-173_*1485-169del
ENST00000644838.1:c.*347-173_*347-169del ENSP00000495910.1:n.*347-173_*347-169del
ENST00000644910.1:c.1571-173_1571-169del
ENST00000645205.1:c.964-173_964-169del ENSP00000495823.1:n.964-173_964-169del
ENST00000645351.1:c.964-173_964-169del ENSP00000494319.1:n.964-173_964-169del
ENST00000645551.1:c.*681-173_*681-169del ENSP00000495928.1:n.*681-173_*681-169del
ENST00000645578.1:c.*738-173_*738-169del ENSP00000496495.1:n.*738-173_*738-169del
ENST00000645582.1:c.*794-173_*794-169del ENSP00000494980.1:n.*794-173_*794-169del
ENST00000645655.1:c.964-173_964-169del ENSP00000495202.1:n.964-173_964-169del
ENST00000645662.1:c.*423-173_*423-169del ENSP00000495964.1:n.*423-173_*423-169del
ENST00000645836.1:c.*738-173_*738-169del ENSP00000493915.1:n.*738-173_*738-169del
ENST00000645899.1:c.964-173_964-169del ENSP00000496773.1:n.964-173_964-169del
ENST00000645964.1:c.*830-173_*830-169del ENSP00000494208.1:n.*830-173_*830-169del
ENST00000646104.1:c.*1432-173_*1432-169del ENSP00000495475.1:n.*1432-173_*1432-169del
ENST00000646186.1:c.*636-173_*636-169del ENSP00000493806.1:n.*636-173_*636-169del
ENST00000646281.1:c.964-173_964-169del ENSP00000495225.1:n.964-173_964-169del
ENST00000646286.1:c.*857-173_*857-169del ENSP00000494291.1:n.*857-173_*857-169del
ENST00000646463.1:c.*729-173_*729-169del ENSP00000494541.1:n.*729-173_*729-169del
ENST00000646528.1:c.*1680-173_*1680-169del ENSP00000496553.1:n.*1680-173_*1680-169del
ENST00000646536.1:c.*254-173_*254-169del ENSP00000494801.1:n.*254-173_*254-169del
ENST00000646624.1:c.964-173_964-169del ENSP00000494575.1:n.964-173_964-169del
ENST00000646821.1:c.*254-173_*254-169del ENSP00000495257.1:n.*254-173_*254-169del
ENST00000646842.1:n.408-173_408-169del
ENST00000646848.1:c.*179-173_*179-169del ENSP00000495831.1:n.*179-173_*179-169del
ENST00000647186.1:c.964-173_964-169del ENSP00000494775.1:n.964-173_964-169del
ENST00000647233.1:n.1944-173_1944-169del
ENST00000647322.1:c.555-173_555-169del
ENST00000647332.1:c.*449-173_*449-169del ENSP00000495024.1:n.*449-173_*449-169del
ENST00000647418.1:c.*738-173_*738-169del ENSP00000493552.1:n.*738-173_*738-169del
ENST00000647428.1:c.625-173_625-169del ENSP00000495630.1:n.625-173_625-169del
ENST00000651186.1:c.625-173_625-169del ENSP00000498645.1:n.625-173_625-169del