Canonical Allele Identifier: CA2586971629

Gene: AGXT

Linked Data

• ClinVar Variation Id: 2681174
• ClinVar RCV Id: RCV003468699

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240868905dup , CM000664.2:g.240868905dup	GRCh38
NC_000002.11:g.241808322dup , CM000664.1:g.241808322dup	GRCh37
NC_000002.10:g.241456995dup	NCBI36
NG_008005.1:g.5161dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000307503.4:c.40dup MANE Select	ENSP00000302620.3:p.Leu14ProfsTer?
ENST00000307503.3:c.40dup	ENSP00000302620.3:p.Leu14ProfsTer?
ENST00000472436.1:n.60dup
NM_000030.2:c.40dup	NP_000021.1:p.Leu14ProfsTer?
XR_924060.1:n.405+1330dup
NM_000030.3:c.40dup MANE Select	NP_000021.1:p.Leu14ProfsTer?