Canonical Allele Identifier: CA2695223157
Gene: GAMT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399730_1399880del , CM000681.2:g.1399730_1399880del GRCh38
NC_000019.9:g.1399729_1399879del , CM000681.1:g.1399729_1399879del GRCh37
NC_000019.8:g.1350729_1350879del NCBI36
NG_009785.1:g.6676_6826del

Transcript Alleles

HGVS Amino-acid change
ENST00000252288.8:c.242_327+65del
ENST00000447102.8:c.242_327+65del
ENST00000640762.1:c.173_258+65del
ENST00000252288.6:c.242_327+65del
ENST00000447102.7:c.242_327+65del
NM_000156.5:c.242_327+65del
NM_138924.2:c.242_327+65del
NM_000156.6:c.242_327+65del
NM_138924.3:c.242_327+65del
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