Canonical Allele Identifier: CA617686838

Gene: GATM

Linked Data

• dbSNP Id: rs1345242022
• gnomAD v2: 15-45685894-AT-A
• gnomAD v3: 15-45393696-AT-A
• gnomAD v4: 15-45393696-AT-A
• MyVariant Identifiers: chr15:g.45685895del (hg19) ; chr15:g.45393697del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45393703del , CM000677.2:g.45393703del	GRCh38
NC_000015.9:g.45685901del , CM000677.1:g.45685901del	GRCh37
NC_000015.8:g.43473193del	NCBI36
NG_011674.2:g.13621del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000458245.5:n.640+3225del
ENST00000527933.2:n.512+2470del
ENST00000560538.1:n.338+3225del
ENST00000561148.5:c.-319+3225del	ENSP00000453860.1:n.-319+3225del
XM_011521450.1:c.31+3225del	XP_011519752.1:n.31+3225del
NM_001321015.1:c.-395+3225del	NP_001307944.1:n.-395+3225del
NM_001321015.2:c.-395+3225del	NP_001307944.1:n.-395+3225del