Canonical Allele Identifier: CA2582641488
Gene: GAMT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399793del , CM000681.2:g.1399793del GRCh38
NC_000019.9:g.1399792del , CM000681.1:g.1399792del GRCh37
NC_000019.8:g.1350792del NCBI36
NG_009785.1:g.6762del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.327+1del
ENST00000447102.8:c.327+1del
ENST00000591788.3:c.10+1del
ENST00000640762.1:c.258+1del
ENST00000252288.6:c.327+1del
ENST00000447102.7:c.327+1del
ENST00000591788.2:c.12+1del
NM_000156.5:c.327+1del
NM_138924.2:c.327+1del
NM_000156.6:c.327+1del
NM_138924.3:c.327+1del