Canonical Allele Identifier: CA2607663569
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs2106432646
gnomAD v3: 2-240879232-TC-T
gnomAD v4: 2-240879232-TC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240879236del , CM000664.2:g.240879236del GRCh38
NC_000002.11:g.241818653del , CM000664.1:g.241818653del GRCh37
NC_000002.10:g.241467326del NCBI36
NG_008005.1:g.15492del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.*415del MANE Select ENSP00000302620.3:n.*415del
ENST00000470255.1:n.1372del
NM_000030.3:c.*415del MANE Select NP_000021.1:n.*415del
Search 100 bp 5'
Search 100 bp 3'