Canonical Allele Identifier: CA2695197713
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 2664111
ClinVar RCV Id: RCV003445257

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878715_240878722del , CM000664.2:g.240878715_240878722del GRCh38
NC_000002.11:g.241818132_241818139del , CM000664.1:g.241818132_241818139del GRCh37
NC_000002.10:g.241466805_241466812del NCBI36
NG_008005.1:g.14971_14978del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.1073_1080del
ENST00000307503.3:c.1073_1080del
ENST00000470255.1:n.851_858del
NM_000030.2:c.1073_1080del
NM_000030.3:c.1073_1080del