Canonical Allele Identifier: CA2830536377
Gene: TBC1D14 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.7009714_7009715del , CM000666.2:g.7009714_7009715del GRCh38
NC_000004.11:g.7011441_7011442del , CM000666.1:g.7011441_7011442del GRCh37
NC_000004.10:g.7062342_7062343del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000409757.9:c.1447-163_1447-162del MANE Select ENSP00000386921.4:n.1447-163_1447-162del
ENST00000409757.8:c.1447-163_1447-162del ENSP00000386921.4:n.1447-163_1447-162del
ENST00000410031.5:c.763-163_763-162del ENSP00000386343.1:n.763-163_763-162del
ENST00000439515.2:c.406-163_406-162del ENSP00000389082.2:n.406-163_406-162del
ENST00000446947.6:c.427-163_427-162del ENSP00000405875.3:n.427-163_427-162del
ENST00000448507.5:c.1447-163_1447-162del ENSP00000404041.1:n.1447-163_1447-162del
ENST00000451522.6:c.607-163_607-162del ENSP00000388886.2:n.607-163_607-162del
NM_001113361.1:c.1447-163_1447-162del NP_001106832.1:n.1447-163_1447-162del
NM_001113363.1:c.607-163_607-162del NP_001106834.1:n.607-163_607-162del
NM_001286805.1:c.427-163_427-162del NP_001273734.1:n.427-163_427-162del
NM_020773.2:c.1447-163_1447-162del NP_065824.2:n.1447-163_1447-162del
XM_005247986.1:c.1447-939_1447-938del XP_005248043.1:n.1447-939_1447-938del
XM_006713895.2:c.1447-163_1447-162del XP_006713958.1:n.1447-163_1447-162del
XM_011513507.1:c.1549-163_1549-162del XP_011511809.1:n.1549-163_1549-162del
XM_011513508.1:c.1549-163_1549-162del XP_011511810.1:n.1549-163_1549-162del
XM_011513509.1:c.1549-163_1549-162del XP_011511811.1:n.1549-163_1549-162del
XM_011513510.1:c.1468-163_1468-162del XP_011511812.1:n.1468-163_1468-162del
XM_011513511.1:c.1366-163_1366-162del XP_011511813.1:n.1366-163_1366-162del
XM_011513512.1:c.865-163_865-162del XP_011511814.1:n.865-163_865-162del
XM_011513513.1:c.709-163_709-162del XP_011511815.1:n.709-163_709-162del
XR_241653.1:n.1472-939_1472-938del
NM_001330638.1:c.763-163_763-162del NP_001317567.1:n.763-163_763-162del
XM_005247986.3:c.1447-939_1447-938del XP_005248043.1:n.1447-939_1447-938del
XM_006713895.3:c.1447-163_1447-162del XP_006713958.1:n.1447-163_1447-162del
XM_011513507.3:c.1549-163_1549-162del XP_011511809.1:n.1549-163_1549-162del
XM_011513513.2:c.709-163_709-162del XP_011511815.1:n.709-163_709-162del
XM_017008477.1:c.1447-939_1447-938del XP_016863966.1:n.1447-939_1447-938del
XM_017008479.1:c.607-939_607-938del XP_016863968.1:n.607-939_607-938del
XM_017008480.1:c.529-163_529-162del XP_016863969.1:n.529-163_529-162del
NM_020773.3:c.1447-163_1447-162del MANE Select NP_065824.2:n.1447-163_1447-162del
NM_001113363.2:c.607-163_607-162del NP_001106834.1:n.607-163_607-162del
NM_001330638.2:c.763-163_763-162del NP_001317567.1:n.763-163_763-162del
NM_001113361.2:c.1447-163_1447-162del NP_001106832.1:n.1447-163_1447-162del
NM_001286805.2:c.427-163_427-162del NP_001273734.1:n.427-163_427-162del