Canonical Allele Identifier: CA1339330834
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs2058976841
gnomAD v4: 2-240869049-CG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869055del , CM000664.2:g.240869055del GRCh38
NC_000002.11:g.241808472del , CM000664.1:g.241808472del GRCh37
NC_000002.10:g.241457145del NCBI36
NG_008005.1:g.5311del

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.165+25del MANE Select ENSP00000302620.3:n.165+25del
ENST00000307503.3:c.165+25del ENSP00000302620.3:n.165+25del
ENST00000472436.1:n.185+25del
NM_000030.2:c.165+25del NP_000021.1:n.165+25del
XR_924060.1:n.405+1183del
NM_000030.3:c.165+25del MANE Select NP_000021.1:n.165+25del
Search 100 bp 5'
Search 100 bp 3'