Canonical Allele Identifier: CA2664006038

Gene: AGXT

Linked Data

• gnomAD v4: 2-240873232-CCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240873233_240873234del , CM000664.2:g.240873233_240873234del	GRCh38
NC_000002.11:g.241812650_241812651del , CM000664.1:g.241812650_241812651del	GRCh37
NC_000002.10:g.241461323_241461324del	NCBI36
NG_008005.1:g.9489_9490del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.595+184_595+185del MANE Select	ENSP00000302620.3:n.595+184_595+185del
ENST00000307503.3:c.595+184_595+185del	ENSP00000302620.3:n.595+184_595+185del
ENST00000472436.1:n.799_800del
ENST00000476698.1:n.332+184_332+185del
NM_000030.2:c.595+184_595+185del	NP_000021.1:n.595+184_595+185del
NM_000030.3:c.595+184_595+185del MANE Select	NP_000021.1:n.595+184_595+185del