Canonical Allele Identifier: CA1044064824

Gene: AGXT

Linked Data

• dbSNP Id: rs2058977121
• gnomAD v3: 2-240869074-T-TCCCACCCACAGATCGTGGACGAGGGAAGGGGATCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA
• gnomAD v4: 2-240869074-T-TCCCACCCACAGATCGTGGACGAGGGAAGGGGATCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240869105_240869106insATCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGG , CM000664.2:g.240869105_240869106insATCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGG	GRCh38
NC_000002.11:g.241808522_241808523insATCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGG , CM000664.1:g.241808522_241808523insATCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGG	GRCh37
NC_000002.10:g.241457195_241457196insATCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGG	NCBI36
NG_008005.1:g.5361_5362insATCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000307503.4:c.166-65_166-64insATCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGG MANE Select	ENSP00000302620.3:n.166-65_166-64insATCAC...
ENST00000307503.3:c.166-65_166-64insATCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGG	ENSP00000302620.3:n.166-65_166-64insATCAC...
ENST00000472436.1:n.186-65_186-64insATCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGG
NM_000030.2:c.166-65_166-64insATCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGG	NP_000021.1:n.166-65_166-64insATCACTGCTTC...
XR_924060.1:n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGATCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
NM_000030.3:c.166-65_166-64insATCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGG MANE Select	NP_000021.1:n.166-65_166-64insATCACTGCTTC...