Canonical Allele Identifier: CA2576548799
Gene: GAMT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401543del , CM000681.2:g.1401543del GRCh38
NC_000019.9:g.1401542del , CM000681.1:g.1401542del GRCh37
NC_000019.8:g.1352542del NCBI36
NG_009785.1:g.5011del

Transcript Alleles

HGVS Amino-acid Change
ENST00000447102.8:c.-67del ENSP00000403536.2:n.-67del
ENST00000252288.6:c.-67del ENSP00000252288.1:n.-67del
ENST00000447102.7:c.-67del ENSP00000403536.2:n.-67del
NM_000156.5:c.-67del NP_000147.1:n.-67del
NM_138924.2:c.-67del NP_620279.1:n.-67del