Canonical Allele Identifier: CA2540385941

Gene: AGXT

Linked Data

• gnomAD v4: 2-240869416-CTGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240869417_240869419del , CM000664.2:g.240869417_240869419del	GRCh38
NC_000002.11:g.241808834_241808836del , CM000664.1:g.241808834_241808836del	GRCh37
NC_000002.10:g.241457507_241457509del	NCBI36
NG_008005.1:g.5673_5675del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.358+55_358+57del MANE Select	ENSP00000302620.3:n.358+55_358+57del
ENST00000307503.3:c.358+55_358+57del	ENSP00000302620.3:n.358+55_358+57del
ENST00000472436.1:n.378+55_378+57del
NM_000030.2:c.358+55_358+57del	NP_000021.1:n.358+55_358+57del
XR_924060.1:n.405+814_405+816del
NM_000030.3:c.358+55_358+57del MANE Select	NP_000021.1:n.358+55_358+57del