Canonical Allele Identifier: CA2516766471

Gene: TBC1D4

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.75309892_75309893insTTTGTGGTTTTGTTTTAAA , CM000675.2:g.75309892_75309893insTTTGTGGTTTTGTTTTAAA	GRCh38
NC_000013.10:g.75884028_75884029insTTTGTGGTTTTGTTTTAAA , CM000675.1:g.75884028_75884029insTTTGTGGTTTTGTTTTAAA	GRCh37
NC_000013.9:g.74782029_74782030insTTTGTGGTTTTGTTTTAAA	NCBI36
NG_042850.1:g.177277_177278insTTAAAACAAAACCACAAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377636.8:c.2593+50_2593+51insTTAAAACAAAACCACAAAT MANE Select	ENSP00000366863.3:n.2593+50_2593+51insTTAAAACAAAACCACAAAT
ENST00000648194.1:c.1861+50_1861+51insTTAAAACAAAACCACAAAT	ENSP00000496983.1:n.1861+50_1861+51insTTAAAACAAAACCACAAAT
ENST00000377625.6:c.2404+50_2404+51insTTAAAACAAAACCACAAAT	ENSP00000366852.2:n.2404+50_2404+51insTTAAAACAAAACCACAAAT
ENST00000377636.7:c.2593+50_2593+51insTTAAAACAAAACCACAAAT	ENSP00000366863.3:n.2593+50_2593+51insTTAAAACAAAACCACAAAT
ENST00000431480.6:c.2569+50_2569+51insTTAAAACAAAACCACAAAT	ENSP00000395986.2:n.2569+50_2569+51insTTAAAACAAAACCACAAAT
ENST00000493487.1:n.452+50_452+51insTTAAAACAAAACCACAAAT
NM_001286658.1:c.2569+50_2569+51insTTAAAACAAAACCACAAAT	NP_001273587.1:n.2569+50_2569+51insTTAAAACAAAACCACAAAT
NM_001286658.2:c.2569+50_2569+51insTTAAAACAAAACCACAAAT	NP_001273587.1:n.2569+50_2569+51insTTAAAACAAAACCACAAAT
NM_001286659.1:c.2404+50_2404+51insTTAAAACAAAACCACAAAT	NP_001273588.1:n.2404+50_2404+51insTTAAAACAAAACCACAAAT
NM_001286659.2:c.2404+50_2404+51insTTAAAACAAAACCACAAAT	NP_001273588.1:n.2404+50_2404+51insTTAAAACAAAACCACAAAT
NM_014832.3:c.2593+50_2593+51insTTAAAACAAAACCACAAAT	NP_055647.2:n.2593+50_2593+51insTTAAAACAAAACCACAAAT
NM_014832.4:c.2593+50_2593+51insTTAAAACAAAACCACAAAT	NP_055647.2:n.2593+50_2593+51insTTAAAACAAAACCACAAAT
XM_005266603.1:c.2518+50_2518+51insTTAAAACAAAACCACAAAT	XP_005266660.1:n.2518+50_2518+51insTTAAAACAAAACCACAAAT
XM_005266605.1:c.2050+50_2050+51insTTAAAACAAAACCACAAAT	XP_005266662.1:n.2050+50_2050+51insTTAAAACAAAACCACAAAT
XM_006719903.2:c.2119+50_2119+51insTTAAAACAAAACCACAAAT	XP_006719966.1:n.2119+50_2119+51insTTAAAACAAAACCACAAAT
XM_011535331.1:c.2482+50_2482+51insTTAAAACAAAACCACAAAT	XP_011533633.1:n.2482+50_2482+51insTTAAAACAAAACCACAAAT
XM_005266603.2:c.2518+50_2518+51insTTAAAACAAAACCACAAAT	XP_005266660.1:n.2518+50_2518+51insTTAAAACAAAACCACAAAT
XM_005266605.3:c.2050+50_2050+51insTTAAAACAAAACCACAAAT	XP_005266662.1:n.2050+50_2050+51insTTAAAACAAAACCACAAAT
XM_006719903.3:c.2119+50_2119+51insTTAAAACAAAACCACAAAT	XP_006719966.1:n.2119+50_2119+51insTTAAAACAAAACCACAAAT
XM_011535331.2:c.2482+50_2482+51insTTAAAACAAAACCACAAAT	XP_011533633.1:n.2482+50_2482+51insTTAAAACAAAACCACAAAT
XM_017020882.2:c.1861+50_1861+51insTTAAAACAAAACCACAAAT	XP_016876371.1:n.1861+50_1861+51insTTAAAACAAAACCACAAAT
XM_017020883.2:c.1750+50_1750+51insTTAAAACAAAACCACAAAT	XP_016876372.1:n.1750+50_1750+51insTTAAAACAAAACCACAAAT
XM_017020884.2:c.160+50_160+51insTTAAAACAAAACCACAAAT	XP_016876373.1:n.160+50_160+51insTTAAAACAAAACCACAAAT
NM_014832.5:c.2593+50_2593+51insTTAAAACAAAACCACAAAT MANE Select	NP_055647.2:n.2593+50_2593+51insTTAAAACAAAACCACAAAT