Canonical Allele Identifier: CA1044064827

Gene: AGXT

Linked Data

• dbSNP Id: rs1559567834
• gnomAD v3: 2-240869074-T-TCCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGAGGGCCTGGGTCTCACCCCTGTA
• gnomAD v4: 2-240869074-T-TCCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGAGGGCCTGGGTCTCACCCCTGTA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240869088_240869089insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGAGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC , CM000664.2:g.240869088_240869089insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGAGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC	GRCh38
NC_000002.11:g.241808505_241808506insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGAGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC , CM000664.1:g.241808505_241808506insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGAGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC	GRCh37
NC_000002.10:g.241457178_241457179insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGAGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC	NCBI36
NG_008005.1:g.5344_5345insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGAGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC

Transcript Alleles

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