Canonical Allele Identifier: CA275818
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 204177
ClinVar RCV Id: RCV000186384
dbSNP Id: rs796052069

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869219dup , CM000664.2:g.240869219dup GRCh38
NC_000002.11:g.241808636dup , CM000664.1:g.241808636dup GRCh37
NC_000002.10:g.241457309dup NCBI36
NG_008005.1:g.5475dup

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.215dup MANE Select ENSP00000302620.3:p.Asn72LysfsTer?
ENST00000307503.3:c.215dup ENSP00000302620.3:p.Asn72LysfsTer?
ENST00000472436.1:n.235dup
NM_000030.2:c.215dup NP_000021.1:p.Asn72LysfsTer?
XR_924060.1:n.405+1015dup
NM_000030.3:c.215dup MANE Select NP_000021.1:p.Asn72LysfsTer?