Canonical Allele Identifier: CA2576548781
Gene: GAMT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401274_1401276del , CM000681.2:g.1401274_1401276del GRCh38
NC_000019.9:g.1401273_1401275del , CM000681.1:g.1401273_1401275del GRCh37
NC_000019.8:g.1352273_1352275del NCBI36
NG_009785.1:g.5279_5281del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.181+21_181+23del MANE Select ENSP00000252288.1:n.181+21_181+23del
ENST00000447102.8:c.181+21_181+23del ENSP00000403536.2:n.181+21_181+23del
ENST00000640762.1:c.112+90_112+92del ENSP00000492031.1:n.112+90_112+92del
ENST00000252288.6:c.181+21_181+23del ENSP00000252288.1:n.181+21_181+23del
ENST00000447102.7:c.181+21_181+23del ENSP00000403536.2:n.181+21_181+23del
NM_000156.5:c.181+21_181+23del NP_000147.1:n.181+21_181+23del
NM_138924.2:c.181+21_181+23del NP_620279.1:n.181+21_181+23del
NM_000156.6:c.181+21_181+23del MANE Select NP_000147.1:n.181+21_181+23del
NM_138924.3:c.181+21_181+23del NP_620279.1:n.181+21_181+23del
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