Canonical Allele Identifier: CA2515539148
Gene: GAMT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401250_1401253del , CM000681.2:g.1401250_1401253del GRCh38
NC_000019.9:g.1401249_1401252del , CM000681.1:g.1401249_1401252del GRCh37
NC_000019.8:g.1352249_1352252del NCBI36
NG_009785.1:g.5301_5304del

Transcript Alleles

HGVS Amino-acid change
ENST00000252288.8:c.181+43_181+46del MANE Select ENSP00000252288.1:n.181+43_181+46del
ENST00000447102.8:c.181+43_181+46del ENSP00000403536.2:n.181+43_181+46del
ENST00000640762.1:c.112+112_112+115del ENSP00000492031.1:n.112+112_112+115del
ENST00000252288.6:c.181+43_181+46del ENSP00000252288.1:n.181+43_181+46del
ENST00000447102.7:c.181+43_181+46del ENSP00000403536.2:n.181+43_181+46del
NM_000156.5:c.181+43_181+46del NP_000147.1:n.181+43_181+46del
NM_138924.2:c.181+43_181+46del NP_620279.1:n.181+43_181+46del
NM_000156.6:c.181+43_181+46del MANE Select NP_000147.1:n.181+43_181+46del
NM_138924.3:c.181+43_181+46del NP_620279.1:n.181+43_181+46del
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