Canonical Allele Identifier: CA2173102646
Gene: TGM5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43252850_43252851delinsGC , CM000677.2:g.43252850_43252851delinsGC GRCh38
NC_000015.9:g.43545048_43545049delinsGC , CM000677.1:g.43545048_43545049delinsGC GRCh37
NC_000015.8:g.41332340_41332341delinsGC NCBI36
NG_016124.1:g.19007_19008delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000220420.10:c.770_771delinsGC MANE Select ENSP00000220420.5:p.Gly257=
ENST00000635871.1:n.239_240delinsGC
ENST00000220420.9:c.770_771delinsGC ENSP00000220420.5:p.Gly257=
ENST00000349114.8:c.524_525delinsGC ENSP00000220419.8:p.Gly175=
ENST00000610827.4:c.767_768delinsGC ENSP00000479732.1:p.Gly256=
ENST00000611276.4:c.521_522delinsGC ENSP00000482542.1:p.Gly174=
ENST00000622115.1:c.773_774delinsGC ENSP00000479638.1:p.Gly258=
NM_004245.3:c.524_525delinsGC NP_004236.1:p.Gly175=
NM_201631.3:c.770_771delinsGC NP_963925.2:p.Gly257=
XM_011522229.1:c.770_771delinsGC XP_011520531.1:p.Gly257=
XR_931948.1:n.944_945delinsGC
NM_004245.4:c.524_525delinsGC NP_004236.1:p.Gly175=
NM_201631.4:c.770_771delinsGC MANE Select NP_963925.2:p.Gly257=