Canonical Allele Identifier: CA2174067235
Gene: GATM HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45393793_45393794delinsTG , CM000677.2:g.45393793_45393794delinsTG GRCh38
NC_000015.9:g.45685991_45685992delinsTG , CM000677.1:g.45685991_45685992delinsTG GRCh37
NC_000015.8:g.43473283_43473284delinsTG NCBI36
NG_011674.2:g.13524_13525delinsCA

Transcript Alleles

HGVS Amino-acid change
ENST00000458245.5:n.640+3128_640+3129delinsCA
ENST00000527933.2:n.512+2373_512+2374delinsCA
ENST00000560538.1:n.338+3128_338+3129delinsCA
ENST00000561148.5:c.-319+3128_-319+3129delinsCA ENSP00000453860.1:n.-319+3128_-319+3129de...
XM_011521450.1:c.31+3128_31+3129delinsCA XP_011519752.1:n.31+3128_31+3129delinsCA
NM_001321015.1:c.-395+3128_-395+3129delinsCA NP_001307944.1:n.-395+3128_-395+3129delin...
NM_001321015.2:c.-395+3128_-395+3129delinsCA NP_001307944.1:n.-395+3128_-395+3129delin...
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