Canonical Allele Identifier: CA68181215
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs547040973
gnomAD v2: 2-241818555-GAA-G
gnomAD v3: 2-240879138-GAA-G
gnomAD v4: 2-240879138-GAA-G
MyVariant Identifiers: chr2:g.241818556_241818557del (hg19) chr2:g.240879139_240879140del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240879140_240879141del , CM000664.2:g.240879140_240879141del GRCh38
NC_000002.11:g.241818557_241818558del , CM000664.1:g.241818557_241818558del GRCh37
NC_000002.10:g.241467230_241467231del NCBI36
NG_008005.1:g.15396_15397del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.*319_*320del MANE Select ENSP00000302620.3:n.*319_*320del
ENST00000470255.1:n.1276_1277del
NM_000030.3:c.*319_*320del MANE Select NP_000021.1:n.*319_*320del
Search 100 bp 5'
Search 100 bp 3'