Canonical Allele Identifier: CA618003368

Gene: TGM5

Linked Data

• dbSNP Id: rs1227510964
• gnomAD v2: 15-43545063-AG-A
• MyVariant Identifiers: chr15:g.43545064del (hg19) ; chr15:g.43252866del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43252868del , CM000677.2:g.43252868del	GRCh38
NC_000015.9:g.43545066del , CM000677.1:g.43545066del	GRCh37
NC_000015.8:g.41332358del	NCBI36
NG_016124.1:g.18992del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.755del MANE Select	ENSP00000220420.5:p.Pro252LeufsTer11
ENST00000635871.1:n.224del
ENST00000220420.9:c.755del	ENSP00000220420.5:p.Pro252LeufsTer11
ENST00000349114.8:c.509del	ENSP00000220419.8:p.Pro170LeufsTer11
ENST00000610827.4:c.752del	ENSP00000479732.1:p.Pro251LeufsTer11
ENST00000611276.4:c.506del	ENSP00000482542.1:p.Pro169LeufsTer11
ENST00000622115.1:c.758del	ENSP00000479638.1:p.Pro253LeufsTer11
NM_004245.3:c.509del	NP_004236.1:p.Pro170LeufsTer11
NM_201631.3:c.755del	NP_963925.2:p.Pro252LeufsTer11
XM_011522229.1:c.755del	XP_011520531.1:p.Pro252LeufsTer11
XR_931948.1:n.929del
NM_004245.4:c.509del	NP_004236.1:p.Pro170LeufsTer11
NM_201631.4:c.755del MANE Select	NP_963925.2:p.Pro252LeufsTer11