Canonical Allele Identifier: CA1044064815

Gene: AGXT

Linked Data

• dbSNP Id: rs1559567836
• gnomAD v3: 2-240869074-T-TCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTTGGGGGGCCTGGGTCTCACCCCTGTA
• gnomAD v4: 2-240869074-T-TCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTTGGGGGGCCTGGGTCTCACCCCTGTA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240869113_240869114insTTCCTCACTTGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC , CM000664.2:g.240869113_240869114insTTCCTCACTTGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC	GRCh38
NC_000002.11:g.241808530_241808531insTTCCTCACTTGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC , CM000664.1:g.241808530_241808531insTTCCTCACTTGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC	GRCh37
NC_000002.10:g.241457203_241457204insTTCCTCACTTGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC	NCBI36
NG_008005.1:g.5369_5370insTTCCTCACTTGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC

Transcript Alleles

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