Canonical Allele Identifier: CA275821
Gene: AGXT HGNC NCBI
ClinVar RCV:
RCV000186387
RCV003330552
ClinVar Variation:
204180
dbSNP:
180177190
gnomAD v4:
chr2-240869285-T-TGGA
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
MyVariant.info:
GRCh38 chr2:g.240869287_240869289dupGAG
GRCh38 chr2:g.240869285_240869286insGGA
GRCh37 chr2:g.241808704_241808706dupGAG
GRCh37 chr2:g.241808702_241808703insGGA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869287_240869289dup , CM000664.2:g.240869287_240869289dup GRCh38
NC_000002.11:g.241808704_241808706dup , CM000664.1:g.241808704_241808706dup GRCh37
NC_000002.10:g.241457377_241457379dup NCBI36
NG_008005.1:g.5543_5545dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.283_285dup MANE Select ENSP00000302620.3:p.Glu95_Pro96insGlu
ENST00000307503.3:c.283_285dup ENSP00000302620.3:p.Glu95_Pro96insGlu
ENST00000472436.1:n.303_305dup
NM_000030.2:c.283_285dup NP_000021.1:p.Glu95_Pro96insGlu
XR_924060.1:n.405+945_405+947dup
NM_000030.3:c.283_285dup MANE Select NP_000021.1:p.Glu95_Pro96insGlu
Search 100 bp 5'
Search 100 bp 3'