Canonical Allele Identifier: CA1044064800

Gene: AGXT

Linked Data

• dbSNP Id: rs2058977096
• gnomAD v3: 2-240869074-T-TCCCACCCACAGATCGTGGATGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA
• gnomAD v4: 2-240869074-T-TCCCACCCACAGATCGTGGATGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240869093_240869094insTGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGA , CM000664.2:g.240869093_240869094insTGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGA	GRCh38
NC_000002.11:g.241808510_241808511insTGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGA , CM000664.1:g.241808510_241808511insTGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGA	GRCh37
NC_000002.10:g.241457183_241457184insTGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGA	NCBI36
NG_008005.1:g.5349_5350insTGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000307503.4:c.165+63_165+64insTGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGA MANE Select	ENSP00000302620.3:n.165+63_165+64insTGAGG...
ENST00000307503.3:c.165+63_165+64insTGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGA	ENSP00000302620.3:n.165+63_165+64insTGAGG...
ENST00000472436.1:n.185+63_185+64insTGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGA
NM_000030.2:c.165+63_165+64insTGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGA	NP_000021.1:n.165+63_165+64insTGAGGGAAGGG...
XR_924060.1:n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCATCCACGATCTGTGGGTGGG
NM_000030.3:c.165+63_165+64insTGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGA MANE Select	NP_000021.1:n.165+63_165+64insTGAGGGAAGGG...