Canonical Allele Identifier: CA2628101364

Gene: TGM5

Linked Data

• gnomAD v4: 15-43253559-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43253562_43253563del , CM000677.2:g.43253562_43253563del	GRCh38
NC_000015.9:g.43545760_43545761del , CM000677.1:g.43545760_43545761del	GRCh37
NC_000015.8:g.41333052_41333053del	NCBI36
NG_016124.1:g.18297_18298del

Transcript Alleles

HGVS	Amino-acid change
ENST00000220420.10:c.629_630del MANE Select	ENSP00000220420.5:p.Thr210ArgfsTer23
ENST00000635871.1:n.98_99del
ENST00000220420.9:c.629_630del	ENSP00000220420.5:p.Thr210ArgfsTer23
ENST00000349114.8:c.383_384del	ENSP00000220419.8:p.Thr128ArgfsTer23
ENST00000610827.4:c.626_627del	ENSP00000479732.1:p.Thr209ArgfsTer23
ENST00000611276.4:c.380_381del	ENSP00000482542.1:p.Thr127ArgfsTer23
ENST00000622115.1:c.632_633del	ENSP00000479638.1:p.Thr211ArgfsTer23
NM_004245.3:c.383_384del	NP_004236.1:p.Thr128ArgfsTer23
NM_201631.3:c.629_630del	NP_963925.2:p.Thr210ArgfsTer23
XM_011522229.1:c.629_630del	XP_011520531.1:p.Thr210ArgfsTer23
XR_931948.1:n.803_804del
NM_004245.4:c.383_384del	NP_004236.1:p.Thr128ArgfsTer23
NM_201631.4:c.629_630del MANE Select	NP_963925.2:p.Thr210ArgfsTer23