Canonical Allele Identifier: CA766965115
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs1251353079
gnomAD v4: 2-240875296-GCCCCCCA-G
MyVariant Identifiers: chr2:g.241814714_241814720del (hg19) chr2:g.240875297_240875303del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875299_240875305del , CM000664.2:g.240875299_240875305del GRCh38
NC_000002.11:g.241814716_241814722del , CM000664.1:g.241814716_241814722del GRCh37
NC_000002.10:g.241463389_241463395del NCBI36
NG_008005.1:g.11555_11561del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.776+95_776+101del MANE Select ENSP00000302620.3:n.776+95_776+101del
ENST00000307503.3:c.776+95_776+101del ENSP00000302620.3:n.776+95_776+101del
ENST00000476698.1:n.428+95_428+101del
NM_000030.2:c.776+95_776+101del NP_000021.1:n.776+95_776+101del
NM_000030.3:c.776+95_776+101del MANE Select NP_000021.1:n.776+95_776+101del
Search 100 bp 5'
Search 100 bp 3'