Canonical Allele Identifier: CA2580068022
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 1725026
ClinVar RCV Id: RCV002308085
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240873033_240873034del , CM000664.2:g.240873033_240873034del GRCh38
NC_000002.11:g.241812450_241812451del , CM000664.1:g.241812450_241812451del GRCh37
NC_000002.10:g.241461123_241461124del NCBI36
NG_008005.1:g.9289_9290del

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.579_580del MANE Select ENSP00000302620.3:p.Tyr194HisfsTer?
ENST00000307503.3:c.579_580del ENSP00000302620.3:p.Tyr194HisfsTer?
ENST00000472436.1:n.599_600del
ENST00000476698.1:n.316_317del
NM_000030.2:c.579_580del NP_000021.1:p.Tyr194HisfsTer?
NM_000030.3:c.579_580del MANE Select NP_000021.1:p.Tyr194HisfsTer?
Search 100 bp 5'
Search 100 bp 3'