Canonical Allele Identifier: CA275820
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 204179
ClinVar RCV Id: RCV000186386
dbSNP Id: rs180177187

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869280del , CM000664.2:g.240869280del GRCh38
NC_000002.11:g.241808697del , CM000664.1:g.241808697del GRCh37
NC_000002.10:g.241457370del NCBI36
NG_008005.1:g.5536del

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.276del MANE Select ENSP00000302620.3:p.Asn92LysfsTer28
ENST00000307503.3:c.276del ENSP00000302620.3:p.Asn92LysfsTer28
ENST00000472436.1:n.296del
NM_000030.2:c.276del NP_000021.1:p.Asn92LysfsTer28
XR_924060.1:n.405+953del
NM_000030.3:c.276del MANE Select NP_000021.1:p.Asn92LysfsTer28