Canonical Allele Identifier: CA713157222

Gene: GATM

Linked Data

• dbSNP Id: rs1326496931
• gnomAD v3: 15-45393840-CATTTTGG-C
• gnomAD v4: 15-45393840-CATTTTGG-C
• MyVariant Identifiers: chr15:g.45686039_45686045del (hg19) ; chr15:g.45393841_45393847del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45393845_45393851del , CM000677.2:g.45393845_45393851del	GRCh38
NC_000015.9:g.45686043_45686049del , CM000677.1:g.45686043_45686049del	GRCh37
NC_000015.8:g.43473335_43473341del	NCBI36
NG_011674.2:g.13471_13477del

Transcript Alleles

HGVS	Amino-acid change
ENST00000458245.5:n.640+3075_640+3081del
ENST00000527933.2:n.512+2320_512+2326del
ENST00000560538.1:n.338+3075_338+3081del
ENST00000561148.5:c.-319+3075_-319+3081del	ENSP00000453860.1:n.-319+3075_-319+3081de...
XM_011521450.1:c.31+3075_31+3081del	XP_011519752.1:n.31+3075_31+3081del
NM_001321015.1:c.-395+3075_-395+3081del	NP_001307944.1:n.-395+3075_-395+3081del
NM_001321015.2:c.-395+3075_-395+3081del	NP_001307944.1:n.-395+3075_-395+3081del