Canonical Allele Identifier: CA7521193

Gene: TGM5

Linked Data

• dbSNP Id: rs774027553
• ExAC: 15:43544985 GC / G
• gnomAD v2: 15-43544985-GC-G
• gnomAD v4: 15-43252787-GC-G
• MyVariant Identifiers: chr15:g.43544986del (hg19) ; chr15:g.43252788del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43252788del , CM000677.2:g.43252788del	GRCh38
NC_000015.9:g.43544986del , CM000677.1:g.43544986del	GRCh37
NC_000015.8:g.41332278del	NCBI36
NG_016124.1:g.19070del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.833del MANE Select	ENSP00000220420.5:p.Cys278SerfsTer11
ENST00000635871.1:n.302del
ENST00000220420.9:c.833del	ENSP00000220420.5:p.Cys278SerfsTer11
ENST00000349114.8:c.587del	ENSP00000220419.8:p.Cys196SerfsTer11
ENST00000610827.4:c.830del	ENSP00000479732.1:p.Cys277SerfsTer11
ENST00000611276.4:c.584del	ENSP00000482542.1:p.Cys195SerfsTer11
ENST00000622115.1:c.836del	ENSP00000479638.1:p.Cys279SerfsTer11
NM_004245.3:c.587del	NP_004236.1:p.Cys196SerfsTer11
NM_201631.3:c.833del	NP_963925.2:p.Cys278SerfsTer11
XM_011522229.1:c.833del	XP_011520531.1:p.Cys278SerfsTer11
XR_931948.1:n.1007del
NM_004245.4:c.587del	NP_004236.1:p.Cys196SerfsTer11
NM_201631.4:c.833del MANE Select	NP_963925.2:p.Cys278SerfsTer11