Canonical Allele Identifier: CA1339336335
Gene: AGXT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240879166_240879175delinsCCCTGAGCTG , CM000664.2:g.240879166_240879175delinsCCCTGAGCTG GRCh38
NC_000002.11:g.241818583_241818592delinsCCCTGAGCTG , CM000664.1:g.241818583_241818592delinsCCCTGAGCTG GRCh37
NC_000002.10:g.241467256_241467265delinsCCCTGAGCTG NCBI36
NG_008005.1:g.15422_15431delinsCCCTGAGCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.*345_*354delinsCCCTGAGCTG MANE Select ENSP00000302620.3:n.*345_*354delinsCCCTGAGCTG
ENST00000470255.1:n.1302_1311delinsCCCTGAGCTG
NM_000030.3:c.*345_*354delinsCCCTGAGCTG MANE Select NP_000021.1:n.*345_*354delinsCCCTGAGCTG