Canonical Allele Identifier: CA2695197714
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 2671860
ClinVar RCV Id: RCV003448959
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878735_240878736del , CM000664.2:g.240878735_240878736del GRCh38
NC_000002.11:g.241818152_241818153del , CM000664.1:g.241818152_241818153del GRCh37
NC_000002.10:g.241466825_241466826del NCBI36
NG_008005.1:g.14991_14992del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.1093_1094del MANE Select ENSP00000302620.3:p.Gly365LeufsTer?
ENST00000307503.3:c.1093_1094del ENSP00000302620.3:p.Gly365LeufsTer?
ENST00000470255.1:n.871_872del
NM_000030.2:c.1093_1094del NP_000021.1:p.Gly365LeufsTer?
NM_000030.3:c.1093_1094del MANE Select NP_000021.1:p.Gly365LeufsTer?
Search 100 bp 5'
Search 100 bp 3'