Canonical Allele Identifier: CA1044064977
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs2058978377

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869256_240869257del , CM000664.2:g.240869256_240869257del GRCh38
NC_000002.11:g.241808673_241808674del , CM000664.1:g.241808673_241808674del GRCh37
NC_000002.10:g.241457346_241457347del NCBI36
NG_008005.1:g.5512_5513del

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.252_253del MANE Select ENSP00000302620.3:p.Ala85ProfsTer?
ENST00000307503.3:c.252_253del ENSP00000302620.3:p.Ala85ProfsTer?
ENST00000472436.1:n.272_273del
NM_000030.2:c.252_253del NP_000021.1:p.Ala85ProfsTer?
XR_924060.1:n.405+978_405+979del
NM_000030.3:c.252_253del MANE Select NP_000021.1:p.Ala85ProfsTer?