Canonical Allele Identifier: CA2754892255
Gene: AGXT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240873401_240873402del , CM000664.2:g.240873401_240873402del GRCh38
NC_000002.11:g.241812818_241812819del , CM000664.1:g.241812818_241812819del GRCh37
NC_000002.10:g.241461491_241461492del NCBI36
NG_008005.1:g.9657_9658del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.595+352_595+353del MANE Select ENSP00000302620.3:n.595+352_595+353del
ENST00000307503.3:c.595+352_595+353del ENSP00000302620.3:n.595+352_595+353del
ENST00000472436.1:n.967_968del
ENST00000476698.1:n.332+352_332+353del
NM_000030.2:c.595+352_595+353del NP_000021.1:n.595+352_595+353del
NM_000030.3:c.595+352_595+353del MANE Select NP_000021.1:n.595+352_595+353del