Canonical Allele Identifier: CA2174067113
Gene: GATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45393452_45393453delinsAT , CM000677.2:g.45393452_45393453delinsAT GRCh38
NC_000015.9:g.45685650_45685651delinsAT , CM000677.1:g.45685650_45685651delinsAT GRCh37
NC_000015.8:g.43472942_43472943delinsAT NCBI36
NG_011674.2:g.13865_13866delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000458245.5:n.640+3469_640+3470delinsAT
ENST00000527933.2:n.512+2714_512+2715delinsAT
ENST00000560538.1:n.338+3469_338+3470delinsAT
ENST00000561148.5:c.-319+3469_-319+3470delinsAT ENSP00000453860.1:n.-319+3469_-319+3470delinsAT
XM_011521450.1:c.31+3469_31+3470delinsAT XP_011519752.1:n.31+3469_31+3470delinsAT
NM_001321015.1:c.-395+3469_-395+3470delinsAT NP_001307944.1:n.-395+3469_-395+3470delinsAT
NM_001321015.2:c.-395+3469_-395+3470delinsAT NP_001307944.1:n.-395+3469_-395+3470delinsAT