Canonical Allele Identifier: CA2754891892
Gene: AGXT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869088_240869089insATGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC , CM000664.2:g.240869088_240869089insATGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC GRCh38
NC_000002.11:g.241808505_241808506insATGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC , CM000664.1:g.241808505_241808506insATGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC GRCh37
NC_000002.10:g.241457178_241457179insATGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC NCBI36
NG_008005.1:g.5344_5345insATGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.165+58_165+59insATGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC MANE Select ENSP00000302620.3:n.165+58_165+59insATGGA...
ENST00000307503.3:c.165+58_165+59insATGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC ENSP00000302620.3:n.165+58_165+59insATGGA...
ENST00000472436.1:n.185+58_185+59insATGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC
NM_000030.2:c.165+58_165+59insATGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC NP_000021.1:n.165+58_165+59insATGGACGAGGG...
XR_924060.1:n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCATGATCTGTGGGTGGG
NM_000030.3:c.165+58_165+59insATGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC MANE Select NP_000021.1:n.165+58_165+59insATGGACGAGGG...