Canonical Allele Identifier: CA2843024350
Gene: AGXT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869353del , CM000664.2:g.240869353del GRCh38
NC_000002.11:g.241808770del , CM000664.1:g.241808770del GRCh37
NC_000002.10:g.241457443del NCBI36
NG_008005.1:g.5609del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.349del MANE Select ENSP00000302620.3:p.Glu117SerfsTer3
ENST00000307503.3:c.349del ENSP00000302620.3:p.Glu117SerfsTer3
ENST00000472436.1:n.369del
NM_000030.2:c.349del NP_000021.1:p.Glu117SerfsTer3
XR_924060.1:n.405+883del
NM_000030.3:c.349del MANE Select NP_000021.1:p.Glu117SerfsTer3
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