Canonical Allele Identifier: CA1339336277

Gene: AGXT

Linked Data

• dbSNP Id: rs2059043569
• gnomAD v4: 2-240879039-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240879040del , CM000664.2:g.240879040del	GRCh38
NC_000002.11:g.241818457del , CM000664.1:g.241818457del	GRCh37
NC_000002.10:g.241467130del	NCBI36
NG_008005.1:g.15296del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.*219del MANE Select	ENSP00000302620.3:n.*219del
ENST00000307503.3:c.*219del	ENSP00000302620.3:n.*219del
ENST00000470255.1:n.1176del
NM_000030.2:c.*219del	NP_000021.1:n.*219del
NM_000030.3:c.*219del MANE Select	NP_000021.1:n.*219del