Canonical Allele Identifier: CA275826
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 204184
dbSNP Id: rs180177215

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240870701_240870703del , CM000664.2:g.240870701_240870703del GRCh38
NC_000002.11:g.241810118_241810120del , CM000664.1:g.241810118_241810120del GRCh37
NC_000002.10:g.241458791_241458793del NCBI36
NG_008005.1:g.6957_6959del

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.416_418del MANE Select ENSP00000302620.3:p.Val139del
ENST00000307503.3:c.416_418del ENSP00000302620.3:p.Val139del
ENST00000472436.1:n.436_438del
NM_000030.2:c.416_418del NP_000021.1:p.Val139del
NM_000030.3:c.416_418del MANE Select NP_000021.1:p.Val139del