Canonical Allele Identifier: CA2664009095
Gene: AGXT HGNC NCBI

Linked Data

gnomAD v4: 2-240875254-AGGTGGGGCGCT-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875257_240875267del , CM000664.2:g.240875257_240875267del GRCh38
NC_000002.11:g.241814674_241814684del , CM000664.1:g.241814674_241814684del GRCh37
NC_000002.10:g.241463347_241463357del NCBI36
NG_008005.1:g.11513_11523del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.776+53_776+63del MANE Select ENSP00000302620.3:n.776+53_776+63del
ENST00000307503.3:c.776+53_776+63del ENSP00000302620.3:n.776+53_776+63del
ENST00000476698.1:n.428+53_428+63del
NM_000030.2:c.776+53_776+63del NP_000021.1:n.776+53_776+63del
NM_000030.3:c.776+53_776+63del MANE Select NP_000021.1:n.776+53_776+63del
Search 100 bp 5'
Search 100 bp 3'