Canonical Allele Identifier: CA1339336138
Gene: AGXT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878749_240878751delinsCCG , CM000664.2:g.240878749_240878751delinsCCG GRCh38
NC_000002.11:g.241818166_241818168delinsCCG , CM000664.1:g.241818166_241818168delinsCCG GRCh37
NC_000002.10:g.241466839_241466841delinsCCG NCBI36
NG_008005.1:g.15005_15007delinsCCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.1107_1109delinsCCG MANE Select ENSP00000302620.3:p.Thr369=
ENST00000307503.3:c.1107_1109delinsCCG ENSP00000302620.3:p.Thr369=
ENST00000470255.1:n.885_887delinsCCG
NM_000030.2:c.1107_1109delinsCCG NP_000021.1:p.Thr369=
NM_000030.3:c.1107_1109delinsCCG MANE Select NP_000021.1:p.Thr369=
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