Canonical Allele Identifier: CA275817
Gene: AGXT HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 204176
ClinVar RCV Id: RCV000186383
dbSNP Id: rs180177171
COSMIC: COSM308997

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868991del , CM000664.2:g.240868991del GRCh38
NC_000002.10:g.241457081del NCBI36
NC_000002.11:g.241808408del , CM000664.1:g.241808408del GRCh37
NG_008005.1:g.5247del

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.3:c.126del ENSP00000302620.3:p.Leu43CysfsTer3
ENST00000472436.1:n.146del
NM_000030.2:c.126del VV NP_000021.1:p.Leu43CysfsTer3
XR_924060.1:n.405+1247del