Canonical Allele Identifier: CA275858
Gene: AGXT HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 204206
ClinVar RCV Id: RCV000186413
dbSNP Id: rs180177291

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240877576_240877578del , CM000664.2:g.240877576_240877578del GRCh38
NC_000002.11:g.241816993_241816995del , CM000664.1:g.241816993_241816995del GRCh37
NC_000002.10:g.241465666_241465668del NCBI36
NG_008005.1:g.13832_13834del

Transcript Alleles

HGVS Amino-acid change
NM_000030.2:c.886_888del VV NP_000021.1:p.Ala296del
NM_000030.3:c.886_888del VV MANE Preferred NP_000021.1:p.Ala296del
ENST00000307503.3:c.886_888del ENSP00000302620.3:p.Ala296del
ENST00000470255.1:n.664_666del