Canonical Allele Identifier: CA2730739594
Gene: GATM HGNC NCBI

Linked Data

dbSNP Id: rs2140680602

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45393810del , CM000677.2:g.45393810del GRCh38
NC_000015.9:g.45686008del , CM000677.1:g.45686008del GRCh37
NC_000015.8:g.43473300del NCBI36
NG_011674.2:g.13508del

Transcript Alleles

HGVS Amino-acid change
ENST00000458245.5:n.640+3112del
ENST00000527933.2:n.512+2357del
ENST00000560538.1:n.338+3112del
ENST00000561148.5:c.-319+3112del ENSP00000453860.1:n.-319+3112del
XM_011521450.1:c.31+3112del XP_011519752.1:n.31+3112del
NM_001321015.1:c.-395+3112del NP_001307944.1:n.-395+3112del
NM_001321015.2:c.-395+3112del NP_001307944.1:n.-395+3112del