Canonical Allele Identifier: CA1339336161
Gene: AGXT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878782_240878783delinsGA , CM000664.2:g.240878782_240878783delinsGA GRCh38
NC_000002.11:g.241818199_241818200delinsGA , CM000664.1:g.241818199_241818200delinsGA GRCh37
NC_000002.10:g.241466872_241466873delinsGA NCBI36
NG_008005.1:g.15038_15039delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.1140_1141delinsGA MANE Select ENSP00000302620.3:p.Leu380=
ENST00000307503.3:c.1140_1141delinsGA ENSP00000302620.3:p.Leu380=
ENST00000470255.1:n.918_919delinsGA
NM_000030.2:c.1140_1141delinsGA NP_000021.1:p.Leu380=
NM_000030.3:c.1140_1141delinsGA MANE Select NP_000021.1:p.Leu380=