Canonical Allele Identifier: CA2664007711
Gene: AGXT HGNC NCBI

Linked Data

gnomAD v4: 2-240873989-CT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240873990del , CM000664.2:g.240873990del GRCh38
NC_000002.11:g.241813407del , CM000664.1:g.241813407del GRCh37
NC_000002.10:g.241462080del NCBI36
NG_008005.1:g.10246del

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.608del MANE Select ENSP00000302620.3:p.Leu203ArgfsTer9
ENST00000307503.3:c.608del ENSP00000302620.3:p.Leu203ArgfsTer9
ENST00000476698.1:n.332+941del
NM_000030.2:c.608del NP_000021.1:p.Leu203ArgfsTer9
NM_000030.3:c.608del MANE Select NP_000021.1:p.Leu203ArgfsTer9
Search 100 bp 5'
Search 100 bp 3'