Canonical Allele Identifier: CA3038472371
Gene: AGXT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869293_240869296del , CM000664.2:g.240869293_240869296del GRCh38
NC_000002.11:g.241808710_241808713del , CM000664.1:g.241808710_241808713del GRCh37
NC_000002.10:g.241457383_241457386del NCBI36
NG_008005.1:g.5549_5552del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.289_292del MANE Select ENSP00000302620.3:p.Gly97ThrfsTer22
ENST00000307503.3:c.289_292del ENSP00000302620.3:p.Gly97ThrfsTer22
ENST00000472436.1:n.309_312del
NM_000030.2:c.289_292del NP_000021.1:p.Gly97ThrfsTer22
XR_924060.1:n.405+937_405+940del
NM_000030.3:c.289_292del MANE Select NP_000021.1:p.Gly97ThrfsTer22