Canonical Allele Identifier: CA2695197712
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 2671859
ClinVar RCV Id: RCV003448958
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878073_240878074del , CM000664.2:g.240878073_240878074del GRCh38
NC_000002.11:g.241817490_241817491del , CM000664.1:g.241817490_241817491del GRCh37
NC_000002.10:g.241466163_241466164del NCBI36
NG_008005.1:g.14329_14330del

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.994_995del MANE Select ENSP00000302620.3:p.Trp332GlufsTer14
ENST00000307503.3:c.994_995del ENSP00000302620.3:p.Trp332GlufsTer14
ENST00000470255.1:n.772_773del
NM_000030.2:c.994_995del NP_000021.1:p.Trp332GlufsTer14
NM_000030.3:c.994_995del MANE Select NP_000021.1:p.Trp332GlufsTer14
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