Canonical Allele Identifier: CA2695197711
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 2675085
ClinVar RCV Id: RCV003475609 RCV003708804
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240871358del , CM000664.2:g.240871358del GRCh38
NC_000002.11:g.241810775del , CM000664.1:g.241810775del GRCh37
NC_000002.10:g.241459448del NCBI36
NG_008005.1:g.7614del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.433del MANE Select ENSP00000302620.3:p.Gln145SerfsTer9
ENST00000307503.3:c.433del ENSP00000302620.3:p.Gln145SerfsTer9
ENST00000472436.1:n.453del
ENST00000476698.1:n.170del
NM_000030.2:c.433del NP_000021.1:p.Gln145SerfsTer9
NM_000030.3:c.433del MANE Select NP_000021.1:p.Gln145SerfsTer9
Search 100 bp 5'
Search 100 bp 3'