Canonical Allele Identifier: CA7521201

Gene: TGM5

Linked Data

• dbSNP Id: rs759253793
• ExAC: 15:43545002 CG / C
• gnomAD v2: 15-43545002-CG-C
• gnomAD v3: 15-43252804-CG-C
• gnomAD v4: 15-43252804-CG-C
• MyVariant Identifiers: chr15:g.43545003del (hg19) ; chr15:g.43252806del (hg38) ; chr15:g.43252805del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43252807del , CM000677.2:g.43252807del	GRCh38
NC_000015.9:g.43545005del , CM000677.1:g.43545005del	GRCh37
NC_000015.8:g.41332297del	NCBI36
NG_016124.1:g.19053del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.816del MANE Select	ENSP00000220420.5:p.Val273CysfsTer16
ENST00000635871.1:n.285del
ENST00000220420.9:c.816del	ENSP00000220420.5:p.Val273CysfsTer16
ENST00000349114.8:c.570del	ENSP00000220419.8:p.Val191CysfsTer16
ENST00000610827.4:c.813del	ENSP00000479732.1:p.Val272CysfsTer16
ENST00000611276.4:c.567del	ENSP00000482542.1:p.Val190CysfsTer16
ENST00000622115.1:c.819del	ENSP00000479638.1:p.Val274CysfsTer16
NM_004245.3:c.570del	NP_004236.1:p.Val191CysfsTer16
NM_201631.3:c.816del	NP_963925.2:p.Val273CysfsTer16
XM_011522229.1:c.816del	XP_011520531.1:p.Val273CysfsTer16
XR_931948.1:n.990del
NM_004245.4:c.570del	NP_004236.1:p.Val191CysfsTer16
NM_201631.4:c.816del MANE Select	NP_963925.2:p.Val273CysfsTer16