Canonical Allele Identifier: CA2664006205
Gene: AGXT HGNC NCBI

Linked Data

gnomAD v4: 2-240869408-AG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869410del , CM000664.2:g.240869410del GRCh38
NC_000002.11:g.241808827del , CM000664.1:g.241808827del GRCh37
NC_000002.10:g.241457500del NCBI36
NG_008005.1:g.5666del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.358+48del MANE Select ENSP00000302620.3:n.358+48del
ENST00000307503.3:c.358+48del ENSP00000302620.3:n.358+48del
ENST00000472436.1:n.378+48del
NM_000030.2:c.358+48del NP_000021.1:n.358+48del
XR_924060.1:n.405+824del
NM_000030.3:c.358+48del MANE Select NP_000021.1:n.358+48del
Search 100 bp 5'
Search 100 bp 3'