Canonical Allele Identifier: CA2174067244
Gene: GATM HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45393840_45393847delinsCATTTTGG , CM000677.2:g.45393840_45393847delinsCATTTTGG GRCh38
NC_000015.9:g.45686038_45686045delinsCATTTTGG , CM000677.1:g.45686038_45686045delinsCATTTTGG GRCh37
NC_000015.8:g.43473330_43473337delinsCATTTTGG NCBI36
NG_011674.2:g.13471_13478delinsCCAAAATG

Transcript Alleles

HGVS Amino-acid change
ENST00000458245.5:n.640+3075_640+3082delinsCCAAAATG
ENST00000527933.2:n.512+2320_512+2327delinsCCAAAATG
ENST00000560538.1:n.338+3075_338+3082delinsCCAAAATG
ENST00000561148.5:c.-319+3075_-319+3082delinsCCAAAATG ENSP00000453860.1:n.-319+3075_-319+3082de...
XM_011521450.1:c.31+3075_31+3082delinsCCAAAATG XP_011519752.1:n.31+3075_31+3082delinsCCA...
NM_001321015.1:c.-395+3075_-395+3082delinsCCAAAATG NP_001307944.1:n.-395+3075_-395+3082delin...
NM_001321015.2:c.-395+3075_-395+3082delinsCCAAAATG NP_001307944.1:n.-395+3075_-395+3082delin...
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