Canonical Allele Identifier: CA2173102642

Gene: TGM5

Linked Data

• dbSNP Id: rs2042714961

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43252844del , CM000677.2:g.43252844del	GRCh38
NC_000015.9:g.43545042del , CM000677.1:g.43545042del	GRCh37
NC_000015.8:g.41332334del	NCBI36
NG_016124.1:g.19015del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.778del MANE Select	ENSP00000220420.5:p.Ala260ProfsTer3
ENST00000635871.1:n.247del
ENST00000220420.9:c.778del	ENSP00000220420.5:p.Ala260ProfsTer3
ENST00000349114.8:c.532del	ENSP00000220419.8:p.Ala178ProfsTer3
ENST00000610827.4:c.775del	ENSP00000479732.1:p.Ala259ProfsTer3
ENST00000611276.4:c.529del	ENSP00000482542.1:p.Ala177ProfsTer3
ENST00000622115.1:c.781del	ENSP00000479638.1:p.Ala261ProfsTer3
NM_004245.3:c.532del	NP_004236.1:p.Ala178ProfsTer3
NM_201631.3:c.778del	NP_963925.2:p.Ala260ProfsTer3
XM_011522229.1:c.778del	XP_011520531.1:p.Ala260ProfsTer3
XR_931948.1:n.952del
NM_004245.4:c.532del	NP_004236.1:p.Ala178ProfsTer3
NM_201631.4:c.778del MANE Select	NP_963925.2:p.Ala260ProfsTer3