Canonical Allele Identifier: CA2664012541

Gene: AGXT

Linked Data

• gnomAD v4: 2-240878802-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240878806del , CM000664.2:g.240878806del	GRCh38
NC_000002.11:g.241818223del , CM000664.1:g.241818223del	GRCh37
NC_000002.10:g.241466896del	NCBI36
NG_008005.1:g.15062del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.1164del MANE Select	ENSP00000302620.3:p.Lys389ArgfsTer?
ENST00000307503.3:c.1164del	ENSP00000302620.3:p.Lys389ArgfsTer?
ENST00000470255.1:n.942del
NM_000030.2:c.1164del	NP_000021.1:p.Lys389ArgfsTer?
NM_000030.3:c.1164del MANE Select	NP_000021.1:p.Lys389ArgfsTer?