Canonical Allele Identifier: CA1044064847

Gene: AGXT

Linked Data

• gnomAD v3: 2-240869107-T-TCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGG
• gnomAD v4: 2-240869107-T-TCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGGCACTGC , CM000664.2:g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGGCACTGC	GRCh38
NC_000002.11:g.241808530_241808531insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGGCACTGC , CM000664.1:g.241808530_241808531insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGGCACTGC	GRCh37
NC_000002.10:g.241457203_241457204insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGGCACTGC	NCBI36
NG_008005.1:g.5369_5370insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGGCACTGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000307503.4:c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGGCACTGC MANE Select	ENSP00000302620.3:n.166-57_166-56insTTCCT...
ENST00000307503.3:c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGGCACTGC	ENSP00000302620.3:n.166-57_166-56insTTCCT...
ENST00000472436.1:n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGGCACTGC
NM_000030.2:c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGGCACTGC	NP_000021.1:n.166-57_166-56insTTCCTCACTCG...
XR_924060.1:n.405+1125_405+1126insCCCCCCTTCCCTCGTCCACGATCTGTGGGTGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTG
NM_000030.3:c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGGCACTGC MANE Select	NP_000021.1:n.166-57_166-56insTTCCTCACTCG...