Canonical Allele Identifier: CA2174067187

Gene: GATM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45393651_45393653delinsTCC , CM000677.2:g.45393651_45393653delinsTCC	GRCh38
NC_000015.9:g.45685849_45685851delinsTCC , CM000677.1:g.45685849_45685851delinsTCC	GRCh37
NC_000015.8:g.43473141_43473143delinsTCC	NCBI36
NG_011674.2:g.13665_13667delinsGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000458245.5:n.640+3269_640+3271delinsGGA
ENST00000527933.2:n.512+2514_512+2516delinsGGA
ENST00000560538.1:n.338+3269_338+3271delinsGGA
ENST00000561148.5:c.-319+3269_-319+3271delinsGGA	ENSP00000453860.1:n.-319+3269_-319+3271delinsGGA
XM_011521450.1:c.31+3269_31+3271delinsGGA	XP_011519752.1:n.31+3269_31+3271delinsGGA
NM_001321015.1:c.-395+3269_-395+3271delinsGGA	NP_001307944.1:n.-395+3269_-395+3271delinsGGA
NM_001321015.2:c.-395+3269_-395+3271delinsGGA	NP_001307944.1:n.-395+3269_-395+3271delinsGGA