Canonical Allele Identifier: CA2102689141
Gene: TBC1D4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.75309879_75309885delinsGTAGGTT , CM000675.2:g.75309879_75309885delinsGTAGGTT GRCh38
NC_000013.10:g.75884015_75884021delinsGTAGGTT , CM000675.1:g.75884015_75884021delinsGTAGGTT GRCh37
NC_000013.9:g.74782016_74782022delinsGTAGGTT NCBI36
NG_042850.1:g.177284_177290delinsAACCTAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000377636.8:c.2593+57_2593+63delinsAACCTAC MANE Select ENSP00000366863.3:n.2593+57_2593+63delinsAACCTAC
ENST00000648194.1:c.1861+57_1861+63delinsAACCTAC ENSP00000496983.1:n.1861+57_1861+63delinsAACCTAC
ENST00000377625.6:c.2404+57_2404+63delinsAACCTAC ENSP00000366852.2:n.2404+57_2404+63delinsAACCTAC
ENST00000377636.7:c.2593+57_2593+63delinsAACCTAC ENSP00000366863.3:n.2593+57_2593+63delinsAACCTAC
ENST00000431480.6:c.2569+57_2569+63delinsAACCTAC ENSP00000395986.2:n.2569+57_2569+63delinsAACCTAC
ENST00000493487.1:n.452+57_452+63delinsAACCTAC
NM_001286658.1:c.2569+57_2569+63delinsAACCTAC NP_001273587.1:n.2569+57_2569+63delinsAACCTAC
NM_001286658.2:c.2569+57_2569+63delinsAACCTAC NP_001273587.1:n.2569+57_2569+63delinsAACCTAC
NM_001286659.1:c.2404+57_2404+63delinsAACCTAC NP_001273588.1:n.2404+57_2404+63delinsAACCTAC
NM_001286659.2:c.2404+57_2404+63delinsAACCTAC NP_001273588.1:n.2404+57_2404+63delinsAACCTAC
NM_014832.3:c.2593+57_2593+63delinsAACCTAC NP_055647.2:n.2593+57_2593+63delinsAACCTAC
NM_014832.4:c.2593+57_2593+63delinsAACCTAC NP_055647.2:n.2593+57_2593+63delinsAACCTAC
XM_005266603.1:c.2518+57_2518+63delinsAACCTAC XP_005266660.1:n.2518+57_2518+63delinsAACCTAC
XM_005266605.1:c.2050+57_2050+63delinsAACCTAC XP_005266662.1:n.2050+57_2050+63delinsAACCTAC
XM_006719903.2:c.2119+57_2119+63delinsAACCTAC XP_006719966.1:n.2119+57_2119+63delinsAACCTAC
XM_011535331.1:c.2482+57_2482+63delinsAACCTAC XP_011533633.1:n.2482+57_2482+63delinsAACCTAC
XM_005266603.2:c.2518+57_2518+63delinsAACCTAC XP_005266660.1:n.2518+57_2518+63delinsAACCTAC
XM_005266605.3:c.2050+57_2050+63delinsAACCTAC XP_005266662.1:n.2050+57_2050+63delinsAACCTAC
XM_006719903.3:c.2119+57_2119+63delinsAACCTAC XP_006719966.1:n.2119+57_2119+63delinsAACCTAC
XM_011535331.2:c.2482+57_2482+63delinsAACCTAC XP_011533633.1:n.2482+57_2482+63delinsAACCTAC
XM_017020882.2:c.1861+57_1861+63delinsAACCTAC XP_016876371.1:n.1861+57_1861+63delinsAACCTAC
XM_017020883.2:c.1750+57_1750+63delinsAACCTAC XP_016876372.1:n.1750+57_1750+63delinsAACCTAC
XM_017020884.2:c.160+57_160+63delinsAACCTAC XP_016876373.1:n.160+57_160+63delinsAACCTAC
NM_014832.5:c.2593+57_2593+63delinsAACCTAC MANE Select NP_055647.2:n.2593+57_2593+63delinsAACCTAC