Canonical Allele Identifier: CA969359917

Gene: GATM

Linked Data

• dbSNP Id: rs1889897291
• gnomAD v3: 15-45393793-TG-T
• gnomAD v4: 15-45393793-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45393794del , CM000677.2:g.45393794del	GRCh38
NC_000015.9:g.45685992del , CM000677.1:g.45685992del	GRCh37
NC_000015.8:g.43473284del	NCBI36
NG_011674.2:g.13524del

Transcript Alleles

HGVS	Amino-acid change
ENST00000458245.5:n.640+3128del
ENST00000527933.2:n.512+2373del
ENST00000560538.1:n.338+3128del
ENST00000561148.5:c.-319+3128del	ENSP00000453860.1:n.-319+3128del
XM_011521450.1:c.31+3128del	XP_011519752.1:n.31+3128del
NM_001321015.1:c.-395+3128del	NP_001307944.1:n.-395+3128del
NM_001321015.2:c.-395+3128del	NP_001307944.1:n.-395+3128del