Canonical Allele Identifier: CA1339330962
Gene: AGXT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869256_240869268delinsTGCCCTGGAGGCC , CM000664.2:g.240869256_240869268delinsTGCCCTGGAGGCC GRCh38
NC_000002.11:g.241808673_241808685delinsTGCCCTGGAGGCC , CM000664.1:g.241808673_241808685delinsTGCCCTGGAGGCC GRCh37
NC_000002.10:g.241457346_241457358delinsTGCCCTGGAGGCC NCBI36
NG_008005.1:g.5512_5524delinsTGCCCTGGAGGCC

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.252_264delinsTGCCCTGGAGGCC MANE Select ENSP00000302620.3:p.Cys84=
ENST00000307503.3:c.252_264delinsTGCCCTGGAGGCC ENSP00000302620.3:p.Cys84=
ENST00000472436.1:n.272_284delinsTGCCCTGGAGGCC
NM_000030.2:c.252_264delinsTGCCCTGGAGGCC NP_000021.1:p.Cys84=
XR_924060.1:n.405+965_405+977delinsGGCCTCCAGGGCA
NM_000030.3:c.252_264delinsTGCCCTGGAGGCC MANE Select NP_000021.1:p.Cys84=