Canonical Allele Identifier: CA658821244
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 551383
dbSNP Id: rs1553648333

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869264_240869275del , CM000664.2:g.240869264_240869275del GRCh38
NC_000002.11:g.241808681_241808692del , CM000664.1:g.241808681_241808692del GRCh37
NC_000002.10:g.241457354_241457365del NCBI36
NG_008005.1:g.5520_5531del

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.260_271del MANE Select ENSP00000302620.3:p.Glu87_Leu90del
ENST00000307503.3:c.260_271del ENSP00000302620.3:p.Glu87_Leu90del
ENST00000472436.1:n.280_291del
NM_000030.2:c.260_271del NP_000021.1:p.Glu87_Leu90del
XR_924060.1:n.405+965_405+976del
NM_000030.3:c.260_271del MANE Select NP_000021.1:p.Glu87_Leu90del