Canonical Allele Identifier: CA2664012454
Gene: AGXT HGNC NCBI

Linked Data

gnomAD v4: 2-240878777-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878780del , CM000664.2:g.240878780del GRCh38
NC_000002.11:g.241818197del , CM000664.1:g.241818197del GRCh37
NC_000002.10:g.241466870del NCBI36
NG_008005.1:g.15036del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.1138del MANE Select ENSP00000302620.3:p.Leu380Ter
ENST00000307503.3:c.1138del ENSP00000302620.3:p.Leu380Ter
ENST00000470255.1:n.916del
NM_000030.2:c.1138del NP_000021.1:p.Leu380Ter
NM_000030.3:c.1138del MANE Select NP_000021.1:p.Leu380Ter
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Search 100 bp 3'