Canonical Allele Identifier: CA2123854473

Gene: TGM1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24258890_24258906delinsCTCCCTCCTTTCCCTTA , CM000676.2:g.24258890_24258906delinsCTCCCTCCTTTCCCTTA	GRCh38
NC_000014.8:g.24728096_24728112delinsCTCCCTCCTTTCCCTTA , CM000676.1:g.24728096_24728112delinsCTCCCTCCTTTCCCTTA	GRCh37
NC_000014.7:g.23797936_23797952delinsCTCCCTCCTTTCCCTTA	NCBI36
NG_007150.1:g.9261_9277delinsTAAGGGAAAGGAGGGAG
NG_007150.2:g.9261_9277delinsTAAGGGAAAGGAGGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206765.11:c.1159+169_1159+185delinsTAAGGGAAAGGAGGGAG MANE Select	ENSP00000206765.6:n.1159+169_1159+185delinsTAAGGGAAAGGAGGGAG
ENST00000206765.10:c.1159+169_1159+185delinsTAAGGGAAAGGAGGGAG	ENSP00000206765.6:n.1159+169_1159+185delinsTAAGGGAAAGGAGGGAG
ENST00000544573.5:c.-28-518_-28-502delinsTAAGGGAAAGGAGGGAG	ENSP00000439446.1:n.-28-518_-28-502delinsTAAGGGAAAGGAGGGAG
ENST00000559136.1:c.232+169_232+185delinsTAAGGGAAAGGAGGGAG	ENSP00000453337.1:n.232+169_232+185delinsTAAGGGAAAGGAGGGAG
NM_000359.2:c.1159+169_1159+185delinsTAAGGGAAAGGAGGGAG	NP_000350.1:n.1159+169_1159+185delinsTAAGGGAAAGGAGGGAG
NM_000359.3:c.1159+169_1159+185delinsTAAGGGAAAGGAGGGAG MANE Select	NP_000350.1:n.1159+169_1159+185delinsTAAGGGAAAGGAGGGAG