Canonical Allele Identifier: CA2664006263

Gene: AGXT

Linked Data

• gnomAD v4: 2-240873358-CCAGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240873361_240873364del , CM000664.2:g.240873361_240873364del	GRCh38
NC_000002.11:g.241812778_241812781del , CM000664.1:g.241812778_241812781del	GRCh37
NC_000002.10:g.241461451_241461454del	NCBI36
NG_008005.1:g.9617_9620del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.595+312_595+315del MANE Select	ENSP00000302620.3:n.595+312_595+315del
ENST00000307503.3:c.595+312_595+315del	ENSP00000302620.3:n.595+312_595+315del
ENST00000472436.1:n.927_930del
ENST00000476698.1:n.332+312_332+315del
NM_000030.2:c.595+312_595+315del	NP_000021.1:n.595+312_595+315del
NM_000030.3:c.595+312_595+315del MANE Select	NP_000021.1:n.595+312_595+315del