Canonical Allele Identifier: CA1044064814

Gene: AGXT

Linked Data

• gnomAD v3: 2-240869074-T-TCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCTCTCGGGGGGCCTGGGTCTCACCCCTGTA
• gnomAD v4: 2-240869074-T-TCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCTCTCGGGGGGCCTGGGTCTCACCCCTGTA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240869113_240869114insTTCCTCTCTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC , CM000664.2:g.240869113_240869114insTTCCTCTCTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC	GRCh38
NC_000002.11:g.241808530_241808531insTTCCTCTCTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC , CM000664.1:g.241808530_241808531insTTCCTCTCTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC	GRCh37
NC_000002.10:g.241457203_241457204insTTCCTCTCTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC	NCBI36
NG_008005.1:g.5369_5370insTTCCTCTCTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000307503.4:c.166-57_166-56insTTCCTCTCTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC MANE Select	ENSP00000302620.3:n.166-57_166-56insTTCCT...
ENST00000307503.3:c.166-57_166-56insTTCCTCTCTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC	ENSP00000302620.3:n.166-57_166-56insTTCCT...
ENST00000472436.1:n.186-57_186-56insTTCCTCTCTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC
NM_000030.2:c.166-57_166-56insTTCCTCTCTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC	NP_000021.1:n.166-57_166-56insTTCCTCTCTCG...
XR_924060.1:n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGAGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
NM_000030.3:c.166-57_166-56insTTCCTCTCTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC MANE Select	NP_000021.1:n.166-57_166-56insTTCCTCTCTCG...