Canonical Allele Identifier: CA2586971634
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 2671868
ClinVar RCV Id: RCV003448967
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.349dup MANE Select ENSP00000302620.3:p.Glu117GlyfsTer?
ENST00000307503.3:c.349dup ENSP00000302620.3:p.Glu117GlyfsTer?
ENST00000472436.1:n.369dup
NM_000030.2:c.349dup NP_000021.1:p.Glu117GlyfsTer?
XR_924060.1:n.405+883dup
NM_000030.3:c.349dup MANE Select NP_000021.1:p.Glu117GlyfsTer?
Search 100 bp 5'
Search 100 bp 3'