Canonical Allele Identifier: CA2664006277

Gene: AGXT

Linked Data

• gnomAD v4: 2-240869414-CCCTGGCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240869417_240869424del , CM000664.2:g.240869417_240869424del	GRCh38
NC_000002.11:g.241808834_241808841del , CM000664.1:g.241808834_241808841del	GRCh37
NC_000002.10:g.241457507_241457514del	NCBI36
NG_008005.1:g.5673_5680del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.358+55_358+62del MANE Select	ENSP00000302620.3:n.358+55_358+62del
ENST00000307503.3:c.358+55_358+62del	ENSP00000302620.3:n.358+55_358+62del
ENST00000472436.1:n.378+55_378+62del
NM_000030.2:c.358+55_358+62del	NP_000021.1:n.358+55_358+62del
XR_924060.1:n.405+811_405+818del
NM_000030.3:c.358+55_358+62del MANE Select	NP_000021.1:n.358+55_358+62del