Canonical Allele Identifier: CA2664004884

Gene: AGXT

Linked Data

• gnomAD v4: 2-240869043-G-GTCGCTTGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240869045_240869046insGCTTGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTC , CM000664.2:g.240869045_240869046insGCTTGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTC	GRCh38
NC_000002.11:g.241808462_241808463insGCTTGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTC , CM000664.1:g.241808462_241808463insGCTTGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTC	GRCh37
NC_000002.10:g.241457135_241457136insGCTTGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTC	NCBI36
NG_008005.1:g.5301_5302insGCTTGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000307503.4:c.165+15_165+16insGCTTGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTC MANE Select	ENSP00000302620.3:n.165+15_165+16insGCTTGGGGGGCCTGGGTCTCACCCA...
ENST00000307503.3:c.165+15_165+16insGCTTGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTC	ENSP00000302620.3:n.165+15_165+16insGCTTGGGGGGCCTGGGTCTCACCCA...
ENST00000472436.1:n.185+15_185+16insGCTTGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTC
NM_000030.2:c.165+15_165+16insGCTTGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTC	NP_000021.1:n.165+15_165+16insGCTTGGGGGGCCTGGGTCTCACCCATGTTCC...
XR_924060.1:n.405+1189_405+1190insGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGGAACATGGGTGAGACCCAGGCCCCCCAAGCGA
NM_000030.3:c.165+15_165+16insGCTTGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTC MANE Select	NP_000021.1:n.165+15_165+16insGCTTGGGGGGCCTGGGTCTCACCCATGTTCC...