Canonical Allele Identifier: CA2586971647
Gene: AGXT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878729_240878737del , CM000664.2:g.240878729_240878737del GRCh38
NC_000002.11:g.241818146_241818154del , CM000664.1:g.241818146_241818154del GRCh37
NC_000002.10:g.241466819_241466827del NCBI36
NG_008005.1:g.14985_14993del

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.1087_1095del MANE Select ENSP00000302620.3:p.Leu363_Gly365del
ENST00000307503.3:c.1087_1095del ENSP00000302620.3:p.Leu363_Gly365del
ENST00000470255.1:n.865_873del
NM_000030.2:c.1087_1095del NP_000021.1:p.Leu363_Gly365del
NM_000030.3:c.1087_1095del MANE Select NP_000021.1:p.Leu363_Gly365del
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Search 100 bp 3'