Canonical Allele Identifier: CA613320815

Gene: TGM1

Linked Data

• dbSNP Id: rs1384668942
• gnomAD v2: 14-24730995-CTCG-C
• gnomAD v4: 14-24261789-CTCG-C
• MyVariant Identifiers: chr14:g.24730996_24730998del (hg19) ; chr14:g.24261790_24261792del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24261794_24261796del , CM000676.2:g.24261794_24261796del	GRCh38
NC_000014.8:g.24731000_24731002del , CM000676.1:g.24731000_24731002del	GRCh37
NC_000014.7:g.23800840_23800842del	NCBI36
NG_007150.1:g.6375_6377del
NG_007150.2:g.6375_6377del

Transcript Alleles

HGVS	Amino-acid change
ENST00000206765.11:c.411_413del MANE Select	ENSP00000206765.6:p.Asp137del
ENST00000206765.10:c.411_413del	ENSP00000206765.6:p.Asp137del
ENST00000544573.5:c.-29+335_-29+337del	ENSP00000439446.1:n.-29+335_-29+337del
NM_000359.2:c.411_413del	NP_000350.1:p.Asp137del
NM_000359.3:c.411_413del MANE Select	NP_000350.1:p.Asp137del