Canonical Allele Identifier: CA2754892256
Gene: AGXT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240873399_240873403del , CM000664.2:g.240873399_240873403del GRCh38
NC_000002.11:g.241812816_241812820del , CM000664.1:g.241812816_241812820del GRCh37
NC_000002.10:g.241461489_241461493del NCBI36
NG_008005.1:g.9655_9659del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.595+350_595+354del MANE Select ENSP00000302620.3:n.595+350_595+354del
ENST00000307503.3:c.595+350_595+354del ENSP00000302620.3:n.595+350_595+354del
ENST00000472436.1:n.965_969del
ENST00000476698.1:n.332+350_332+354del
NM_000030.2:c.595+350_595+354del NP_000021.1:n.595+350_595+354del
NM_000030.3:c.595+350_595+354del MANE Select NP_000021.1:n.595+350_595+354del