Canonical Allele Identifier: CA2586971638
Gene: AGXT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878799del , CM000664.2:g.240878799del GRCh38
NC_000002.11:g.241818216del , CM000664.1:g.241818216del GRCh37
NC_000002.10:g.241466889del NCBI36
NG_008005.1:g.15055del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.1157del MANE Select ENSP00000302620.3:p.His386ProfsTer?
ENST00000307503.3:c.1157del ENSP00000302620.3:p.His386ProfsTer?
ENST00000470255.1:n.935del
NM_000030.2:c.1157del NP_000021.1:p.His386ProfsTer?
NM_000030.3:c.1157del MANE Select NP_000021.1:p.His386ProfsTer?