Canonical Allele Identifier: CA2582641928
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1401440-CG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401443del , CM000681.2:g.1401443del GRCh38
NC_000019.9:g.1401442del , CM000681.1:g.1401442del GRCh37
NC_000019.8:g.1352442del NCBI36
NG_009785.1:g.5113del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.36del MANE Select ENSP00000252288.1:p.Gly13AlafsTer29
ENST00000447102.8:c.36del ENSP00000403536.2:p.Gly13AlafsTer29
ENST00000640762.1:c.36del ENSP00000492031.1:p.Gly13AlafsTer?
ENST00000252288.6:c.36del ENSP00000252288.1:p.Gly13AlafsTer29
ENST00000447102.7:c.36del ENSP00000403536.2:p.Gly13AlafsTer29
NM_000156.5:c.36del NP_000147.1:p.Gly13AlafsTer29
NM_138924.2:c.36del NP_620279.1:p.Gly13AlafsTer29
NM_000156.6:c.36del MANE Select NP_000147.1:p.Gly13AlafsTer29
NM_138924.3:c.36del NP_620279.1:p.Gly13AlafsTer29
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Search 100 bp 3'