Canonical Allele Identifier: CA275814
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 204173
ClinVar RCV Id: RCV000186380
dbSNP Id: rs180177201

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868897_240868898del , CM000664.2:g.240868897_240868898del GRCh38
NC_000002.11:g.241808314_241808315del , CM000664.1:g.241808314_241808315del GRCh37
NC_000002.10:g.241456987_241456988del NCBI36
NG_008005.1:g.5153_5154del

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.32_33del MANE Select ENSP00000302620.3:p.Pro11GlnfsTer?
ENST00000307503.3:c.32_33del ENSP00000302620.3:p.Pro11GlnfsTer?
ENST00000472436.1:n.52_53del
NM_000030.2:c.32_33del NP_000021.1:p.Pro11GlnfsTer?
XR_924060.1:n.405+1341_405+1342del
NM_000030.3:c.32_33del MANE Select NP_000021.1:p.Pro11GlnfsTer?