Canonical Allele Identifier: CA2173102647

Gene: TGM5

Linked Data

• dbSNP Id: rs2042715052
• gnomAD v4: 15-43252850-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43252853del , CM000677.2:g.43252853del	GRCh38
NC_000015.9:g.43545051del , CM000677.1:g.43545051del	GRCh37
NC_000015.8:g.41332343del	NCBI36
NG_016124.1:g.19007del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.770del MANE Select	ENSP00000220420.5:p.Gly257AlafsTer6
ENST00000635871.1:n.239del
ENST00000220420.9:c.770del	ENSP00000220420.5:p.Gly257AlafsTer6
ENST00000349114.8:c.524del	ENSP00000220419.8:p.Gly175AlafsTer6
ENST00000610827.4:c.767del	ENSP00000479732.1:p.Gly256AlafsTer6
ENST00000611276.4:c.521del	ENSP00000482542.1:p.Gly174AlafsTer6
ENST00000622115.1:c.773del	ENSP00000479638.1:p.Gly258AlafsTer6
NM_004245.3:c.524del	NP_004236.1:p.Gly175AlafsTer6
NM_201631.3:c.770del	NP_963925.2:p.Gly257AlafsTer6
XM_011522229.1:c.770del	XP_011520531.1:p.Gly257AlafsTer6
XR_931948.1:n.944del
NM_004245.4:c.524del	NP_004236.1:p.Gly175AlafsTer6
NM_201631.4:c.770del MANE Select	NP_963925.2:p.Gly257AlafsTer6