Canonical Allele Identifier: CA1339336149
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs2059041775
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878762_240878763del , CM000664.2:g.240878762_240878763del GRCh38
NC_000002.11:g.241818179_241818180del , CM000664.1:g.241818179_241818180del GRCh37
NC_000002.10:g.241466852_241466853del NCBI36
NG_008005.1:g.15018_15019del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.1120_1121del MANE Select ENSP00000302620.3:p.Asp374ProfsTer?
ENST00000307503.3:c.1120_1121del ENSP00000302620.3:p.Asp374ProfsTer?
ENST00000470255.1:n.898_899del
NM_000030.2:c.1120_1121del NP_000021.1:p.Asp374ProfsTer?
NM_000030.3:c.1120_1121del MANE Select NP_000021.1:p.Asp374ProfsTer?
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