Canonical Allele Identifier: CA7521180

Gene: TGM5

Linked Data

• dbSNP Id: rs770400977
• ExAC: 15:43544940 TCCTTTCTA / T
• gnomAD v2: 15-43544940-TCCTTTCTA-T
• gnomAD v4: 15-43252742-TCCTTTCTA-T
• MyVariant Identifiers: chr15:g.43544941_43544948del (hg19) ; chr15:g.43252743_43252750del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43252746_43252753del , CM000677.2:g.43252746_43252753del	GRCh38
NC_000015.9:g.43544944_43544951del , CM000677.1:g.43544944_43544951del	GRCh37
NC_000015.8:g.41332236_41332243del	NCBI36
NG_016124.1:g.19108_19115del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.862+9_862+16del MANE Select	ENSP00000220420.5:n.862+9_862+16del
ENST00000635871.1:n.331+9_331+16del
ENST00000220420.9:c.862+9_862+16del	ENSP00000220420.5:n.862+9_862+16del
ENST00000349114.8:c.616+9_616+16del	ENSP00000220419.8:n.616+9_616+16del
ENST00000610827.4:c.859+9_859+16del	ENSP00000479732.1:n.859+9_859+16del
ENST00000611276.4:c.613+9_613+16del	ENSP00000482542.1:n.613+9_613+16del
ENST00000622115.1:c.865+9_865+16del	ENSP00000479638.1:n.865+9_865+16del
NM_004245.3:c.616+9_616+16del	NP_004236.1:n.616+9_616+16del
NM_201631.3:c.862+9_862+16del	NP_963925.2:n.862+9_862+16del
XM_011522229.1:c.862+9_862+16del	XP_011520531.1:n.862+9_862+16del
XR_931948.1:n.1036+9_1036+16del
NM_004245.4:c.616+9_616+16del	NP_004236.1:n.616+9_616+16del
NM_201631.4:c.862+9_862+16del MANE Select	NP_963925.2:n.862+9_862+16del