Canonical Allele Identifier: CA2841618274
Gene: TGM5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43252735del , CM000677.2:g.43252735del GRCh38
NC_000015.9:g.43544933del , CM000677.1:g.43544933del GRCh37
NC_000015.8:g.41332225del NCBI36
NG_016124.1:g.19127del

Transcript Alleles

HGVS Amino-acid Change
ENST00000220420.10:c.862+28del MANE Select ENSP00000220420.5:n.862+28del
ENST00000635871.1:n.331+28del
ENST00000220420.9:c.862+28del ENSP00000220420.5:n.862+28del
ENST00000349114.8:c.616+28del ENSP00000220419.8:n.616+28del
ENST00000610827.4:c.859+28del ENSP00000479732.1:n.859+28del
ENST00000611276.4:c.613+28del ENSP00000482542.1:n.613+28del
ENST00000622115.1:c.865+28del ENSP00000479638.1:n.865+28del
NM_004245.3:c.616+28del NP_004236.1:n.616+28del
NM_201631.3:c.862+28del NP_963925.2:n.862+28del
XM_011522229.1:c.862+28del XP_011520531.1:n.862+28del
XR_931948.1:n.1036+28del
NM_004245.4:c.616+28del NP_004236.1:n.616+28del
NM_201631.4:c.862+28del MANE Select NP_963925.2:n.862+28del