Canonical Allele Identifier: CA1044064816

Gene: AGXT

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240869113_240869114insTTCCTCACTGGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC , CM000664.2:g.240869113_240869114insTTCCTCACTGGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC	GRCh38
NC_000002.11:g.241808530_241808531insTTCCTCACTGGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC , CM000664.1:g.241808530_241808531insTTCCTCACTGGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC	GRCh37
NC_000002.10:g.241457203_241457204insTTCCTCACTGGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC	NCBI36
NG_008005.1:g.5369_5370insTTCCTCACTGGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC

Transcript Alleles

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