Canonical Allele Identifier: CA2664006536

Gene: AGXT

Linked Data

• gnomAD v4: 2-240869467-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240869470del , CM000664.2:g.240869470del	GRCh38
NC_000002.11:g.241808887del , CM000664.1:g.241808887del	GRCh37
NC_000002.10:g.241457560del	NCBI36
NG_008005.1:g.5726del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.358+108del MANE Select	ENSP00000302620.3:n.358+108del
ENST00000307503.3:c.358+108del	ENSP00000302620.3:n.358+108del
ENST00000472436.1:n.378+108del
NM_000030.2:c.358+108del	NP_000021.1:n.358+108del
XR_924060.1:n.405+765del
NM_000030.3:c.358+108del MANE Select	NP_000021.1:n.358+108del