Canonical Allele Identifier: CA275817
Gene: AGXT HGNC NCBI
ClinVar RCV:
RCV000186383
RCV001174889
RCV001215991
ClinVar Variation:
204176
COSMIC:
COSM308997
dbSNP:
180177171
gnomAD v2:
2:241808402 CG / C
gnomAD v4:
chr2-240868985-CG-C
Joint Max Group AF 0.00000789 (EAS)
Exomes Max Group AF 0.00000887 (EAS)
MyVariant.info:
GRCh38 chr2:g.240868991del
GRCh38 chr2:g.240868986del
GRCh37 chr2:g.241808408del
GRCh37 chr2:g.241808403del
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868991del , CM000664.2:g.240868991del GRCh38
NC_000002.11:g.241808408del , CM000664.1:g.241808408del GRCh37
NC_000002.10:g.241457081del NCBI36
NG_008005.1:g.5247del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.126del MANE Select ENSP00000302620.3:p.Leu43CysfsTer3
ENST00000307503.3:c.126del ENSP00000302620.3:p.Leu43CysfsTer3
ENST00000472436.1:n.146del
NM_000030.2:c.126del NP_000021.1:p.Leu43CysfsTer3
XR_924060.1:n.405+1247del
NM_000030.3:c.126del MANE Select NP_000021.1:p.Leu43CysfsTer3
Search 100 bp 5'
Search 100 bp 3'