Canonical Allele Identifier: CA2664012879

Gene: AGXT

Linked Data

• gnomAD v4: 2-240878869-C-CAGCTGTGACCTGCCCACTGGCACACAGCTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240878869_240878870insAGCTGTGACCTGCCCACTGGCACACAGCTGG , CM000664.2:g.240878869_240878870insAGCTGTGACCTGCCCACTGGCACACAGCTGG	GRCh38
NC_000002.11:g.241818286_241818287insAGCTGTGACCTGCCCACTGGCACACAGCTGG , CM000664.1:g.241818286_241818287insAGCTGTGACCTGCCCACTGGCACACAGCTGG	GRCh37
NC_000002.10:g.241466959_241466960insAGCTGTGACCTGCCCACTGGCACACAGCTGG	NCBI36
NG_008005.1:g.15125_15126insAGCTGTGACCTGCCCACTGGCACACAGCTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.*48_*49insAGCTGTGACCTGCCCACTGGCACACAGCTGG MANE Select	ENSP00000302620.3:n.*48_*49insAGCTGTGACCTGCCCACTGGCACACAGCTGG...
ENST00000307503.3:c.*48_*49insAGCTGTGACCTGCCCACTGGCACACAGCTGG	ENSP00000302620.3:n.*48_*49insAGCTGTGACCTGCCCACTGGCACACAGCTGG...
ENST00000470255.1:n.1005_1006insAGCTGTGACCTGCCCACTGGCACACAGCTGG
NM_000030.2:c.*48_*49insAGCTGTGACCTGCCCACTGGCACACAGCTGG	NP_000021.1:n.*48_*49insAGCTGTGACCTGCCCACTGGCACACAGCTGG
NM_000030.3:c.*48_*49insAGCTGTGACCTGCCCACTGGCACACAGCTGG MANE Select	NP_000021.1:n.*48_*49insAGCTGTGACCTGCCCACTGGCACACAGCTGG