Canonical Allele Identifier: CA2317699232
Gene: GAMT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399349_1399350delinsTC , CM000681.2:g.1399349_1399350delinsTC GRCh38
NC_000019.9:g.1399348_1399349delinsTC , CM000681.1:g.1399348_1399349delinsTC GRCh37
NC_000019.8:g.1350348_1350349delinsTC NCBI36
NG_009785.1:g.7204_7205delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.392-155_392-154delinsGA MANE Select ENSP00000252288.1:n.392-155_392-154delinsGA
ENST00000447102.8:c.392-155_392-154delinsGA ENSP00000403536.2:n.392-155_392-154delinsGA
ENST00000591788.3:c.75-155_75-154delinsGA
ENST00000640164.1:n.225-155_225-154delinsGA
ENST00000640762.1:c.323-155_323-154delinsGA ENSP00000492031.1:n.323-155_323-154delinsGA
ENST00000252288.6:c.392-155_392-154delinsGA ENSP00000252288.1:n.392-155_392-154delinsGA
ENST00000447102.7:c.392-155_392-154delinsGA ENSP00000403536.2:n.392-155_392-154delinsGA
ENST00000591788.2:c.77-155_77-154delinsGA ENSP00000466341.2:n.77-155_77-154delinsGA
NM_000156.5:c.392-155_392-154delinsGA NP_000147.1:n.392-155_392-154delinsGA
NM_138924.2:c.392-155_392-154delinsGA NP_620279.1:n.392-155_392-154delinsGA
NM_000156.6:c.392-155_392-154delinsGA MANE Select NP_000147.1:n.392-155_392-154delinsGA
NM_138924.3:c.392-155_392-154delinsGA NP_620279.1:n.392-155_392-154delinsGA
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