Canonical Allele Identifier: CA2838295616

Gene: TGM5

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43253546dup , CM000677.2:g.43253546dup	GRCh38
NC_000015.9:g.43545744dup , CM000677.1:g.43545744dup	GRCh37
NC_000015.8:g.41333036dup	NCBI36
NG_016124.1:g.18315dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.647dup MANE Select	ENSP00000220420.5:p.Ser217LysfsTer17
ENST00000635871.1:n.116dup
ENST00000220420.9:c.647dup	ENSP00000220420.5:p.Ser217LysfsTer17
ENST00000349114.8:c.401dup	ENSP00000220419.8:p.Ser135LysfsTer17
ENST00000610827.4:c.644dup	ENSP00000479732.1:p.Ser216LysfsTer17
ENST00000611276.4:c.398dup	ENSP00000482542.1:p.Ser134LysfsTer17
ENST00000622115.1:c.650dup	ENSP00000479638.1:p.Ser218LysfsTer17
NM_004245.3:c.401dup	NP_004236.1:p.Ser135LysfsTer17
NM_201631.3:c.647dup	NP_963925.2:p.Ser217LysfsTer17
XM_011522229.1:c.647dup	XP_011520531.1:p.Ser217LysfsTer17
XR_931948.1:n.821dup
NM_004245.4:c.401dup	NP_004236.1:p.Ser135LysfsTer17
NM_201631.4:c.647dup MANE Select	NP_963925.2:p.Ser217LysfsTer17