Canonical Allele Identifier: CA2592376690

Gene: GATM

Linked Data

• dbSNP Id: rs1889895253
• gnomAD v3: 15-45393651-TC-T
• gnomAD v4: 15-45393651-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45393654del , CM000677.2:g.45393654del	GRCh38
NC_000015.9:g.45685852del , CM000677.1:g.45685852del	GRCh37
NC_000015.8:g.43473144del	NCBI36
NG_011674.2:g.13666del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000458245.5:n.640+3270del
ENST00000527933.2:n.512+2515del
ENST00000560538.1:n.338+3270del
ENST00000561148.5:c.-319+3270del	ENSP00000453860.1:n.-319+3270del
XM_011521450.1:c.31+3270del	XP_011519752.1:n.31+3270del
NM_001321015.1:c.-395+3270del	NP_001307944.1:n.-395+3270del
NM_001321015.2:c.-395+3270del	NP_001307944.1:n.-395+3270del