Canonical Allele Identifier: CA540535757
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs1210840410
gnomAD v2: 2-241812351-CCCTGCCTCA-C
gnomAD v4: 2-240872934-CCCTGCCTCA-C
MyVariant Identifiers: chr2:g.241812352_241812360del (hg19) chr2:g.240872935_240872943del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240872940_240872948del , CM000664.2:g.240872940_240872948del GRCh38
NC_000002.11:g.241812357_241812365del , CM000664.1:g.241812357_241812365del GRCh37
NC_000002.10:g.241461030_241461038del NCBI36
NG_008005.1:g.9196_9204del

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.525-39_525-31del MANE Select ENSP00000302620.3:n.525-39_525-31del
ENST00000307503.3:c.525-39_525-31del ENSP00000302620.3:n.525-39_525-31del
ENST00000472436.1:n.545-39_545-31del
ENST00000476698.1:n.262-39_262-31del
NM_000030.2:c.525-39_525-31del NP_000021.1:n.525-39_525-31del
NM_000030.3:c.525-39_525-31del MANE Select NP_000021.1:n.525-39_525-31del
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