Canonical Allele Identifier: CA2695197716
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 2671857
ClinVar RCV Id: RCV003448956
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875144_240875146del , CM000664.2:g.240875144_240875146del GRCh38
NC_000002.11:g.241814561_241814563del , CM000664.1:g.241814561_241814563del GRCh37
NC_000002.10:g.241463234_241463236del NCBI36
NG_008005.1:g.11400_11402del

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.716_718del MANE Select ENSP00000302620.3:p.Ser239del
ENST00000307503.3:c.716_718del ENSP00000302620.3:p.Ser239del
ENST00000476698.1:n.368_370del
NM_000030.2:c.716_718del NP_000021.1:p.Ser239del
NM_000030.3:c.716_718del MANE Select NP_000021.1:p.Ser239del
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