Canonical Allele Identifier: CA2174067136
Gene: GATM HGNC NCBI

Linked Data

dbSNP Id: rs1889893417

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45393503_45393504insTGT , CM000677.2:g.45393503_45393504insTGT GRCh38
NC_000015.9:g.45685701_45685702insTGT , CM000677.1:g.45685701_45685702insTGT GRCh37
NC_000015.8:g.43472993_43472994insTGT NCBI36
NG_011674.2:g.13816_13817insAAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000458245.5:n.640+3420_640+3421insAAC
ENST00000527933.2:n.512+2665_512+2666insAAC
ENST00000560538.1:n.338+3420_338+3421insAAC
ENST00000561148.5:c.-319+3420_-319+3421insAAC ENSP00000453860.1:n.-319+3420_-319+3421insAAC
XM_011521450.1:c.31+3420_31+3421insAAC XP_011519752.1:n.31+3420_31+3421insAAC
NM_001321015.1:c.-395+3420_-395+3421insAAC NP_001307944.1:n.-395+3420_-395+3421insAAC
NM_001321015.2:c.-395+3420_-395+3421insAAC NP_001307944.1:n.-395+3420_-395+3421insAAC