Canonical Allele Identifier: CA2582641917
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1401361-TTGCCCAGGA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401365_1401373del , CM000681.2:g.1401365_1401373del GRCh38
NC_000019.9:g.1401364_1401372del , CM000681.1:g.1401364_1401372del GRCh37
NC_000019.8:g.1352364_1352372del NCBI36
NG_009785.1:g.5184_5192del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.107_115del MANE Select ENSP00000252288.1:p.Ile36_Gly38del
ENST00000447102.8:c.107_115del ENSP00000403536.2:p.Ile36_Gly38del
ENST00000640762.1:c.107_112+3del
ENST00000252288.6:c.107_115del ENSP00000252288.1:p.Ile36_Gly38del
ENST00000447102.7:c.107_115del ENSP00000403536.2:p.Ile36_Gly38del
NM_000156.5:c.107_115del NP_000147.1:p.Ile36_Gly38del
NM_138924.2:c.107_115del NP_620279.1:p.Ile36_Gly38del
NM_000156.6:c.107_115del MANE Select NP_000147.1:p.Ile36_Gly38del
NM_138924.3:c.107_115del NP_620279.1:p.Ile36_Gly38del
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