Canonical Allele Identifier: CA2831039022
Gene: GAMT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401331_1401332dup , CM000681.2:g.1401331_1401332dup GRCh38
NC_000019.9:g.1401330_1401331dup , CM000681.1:g.1401330_1401331dup GRCh37
NC_000019.8:g.1352330_1352331dup NCBI36
NG_009785.1:g.5225_5226dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.148_149dup MANE Select ENSP00000252288.1:p.Met50IlefsTer?
ENST00000447102.8:c.148_149dup ENSP00000403536.2:p.Met50IlefsTer?
ENST00000640762.1:c.112+36_112+37dup ENSP00000492031.1:n.112+36_112+37dup
ENST00000252288.6:c.148_149dup ENSP00000252288.1:p.Met50IlefsTer?
ENST00000447102.7:c.148_149dup ENSP00000403536.2:p.Met50IlefsTer?
NM_000156.5:c.148_149dup NP_000147.1:p.Met50IlefsTer?
NM_138924.2:c.148_149dup NP_620279.1:p.Met50IlefsTer?
NM_000156.6:c.148_149dup MANE Select NP_000147.1:p.Met50IlefsTer?
NM_138924.3:c.148_149dup NP_620279.1:p.Met50IlefsTer?
Search 100 bp 5'
Search 100 bp 3'