Canonical Allele Identifier: CA2813256009
Gene: GAMT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399081_1399086del , CM000681.2:g.1399081_1399086del GRCh38
NC_000019.9:g.1399080_1399085del , CM000681.1:g.1399080_1399085del GRCh37
NC_000019.8:g.1350080_1350085del NCBI36
NG_009785.1:g.7468_7473del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.459+42_459+47del MANE Select ENSP00000252288.1:n.459+42_459+47del
ENST00000447102.8:c.459+42_459+47del ENSP00000403536.2:n.459+42_459+47del
ENST00000591788.3:c.142+42_142+47del
ENST00000640164.1:n.292+42_292+47del
ENST00000640762.1:c.390+42_390+47del ENSP00000492031.1:n.390+42_390+47del
ENST00000252288.6:c.459+42_459+47del ENSP00000252288.1:n.459+42_459+47del
ENST00000447102.7:c.459+42_459+47del ENSP00000403536.2:n.459+42_459+47del
ENST00000591788.2:c.144+42_144+47del ENSP00000466341.2:n.144+42_144+47del
NM_000156.5:c.459+42_459+47del NP_000147.1:n.459+42_459+47del
NM_138924.2:c.459+42_459+47del NP_620279.1:n.459+42_459+47del
NM_000156.6:c.459+42_459+47del MANE Select NP_000147.1:n.459+42_459+47del
NM_138924.3:c.459+42_459+47del NP_620279.1:n.459+42_459+47del
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