Canonical Allele Identifier: CA2664006244

Gene: AGXT

Linked Data

• gnomAD v4: 2-240869411-CCTCCCTGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240869413_240869420del , CM000664.2:g.240869413_240869420del	GRCh38
NC_000002.11:g.241808830_241808837del , CM000664.1:g.241808830_241808837del	GRCh37
NC_000002.10:g.241457503_241457510del	NCBI36
NG_008005.1:g.5669_5676del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.358+51_358+58del MANE Select	ENSP00000302620.3:n.358+51_358+58del
ENST00000307503.3:c.358+51_358+58del	ENSP00000302620.3:n.358+51_358+58del
ENST00000472436.1:n.378+51_378+58del
NM_000030.2:c.358+51_358+58del	NP_000021.1:n.358+51_358+58del
XR_924060.1:n.405+814_405+821del
NM_000030.3:c.358+51_358+58del MANE Select	NP_000021.1:n.358+51_358+58del