Canonical Allele Identifier: CA2664009113

Gene: AGXT

Linked Data

• gnomAD v4: 2-240875274-A-AGTTTGGGCTGAAGGCCAGGGCAGTCTCGCTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240875274_240875275insGTTTGGGCTGAAGGCCAGGGCAGTCTCGCTGG , CM000664.2:g.240875274_240875275insGTTTGGGCTGAAGGCCAGGGCAGTCTCGCTGG	GRCh38
NC_000002.11:g.241814691_241814692insGTTTGGGCTGAAGGCCAGGGCAGTCTCGCTGG , CM000664.1:g.241814691_241814692insGTTTGGGCTGAAGGCCAGGGCAGTCTCGCTGG	GRCh37
NC_000002.10:g.241463364_241463365insGTTTGGGCTGAAGGCCAGGGCAGTCTCGCTGG	NCBI36
NG_008005.1:g.11530_11531insGTTTGGGCTGAAGGCCAGGGCAGTCTCGCTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.776+70_776+71insGTTTGGGCTGAAGGCCAGGGCAGTCTCGCTGG MANE Select	ENSP00000302620.3:n.776+70_776+71insGTTTGGGCTGAAGGCCAGGGCAGTC...
ENST00000307503.3:c.776+70_776+71insGTTTGGGCTGAAGGCCAGGGCAGTCTCGCTGG	ENSP00000302620.3:n.776+70_776+71insGTTTGGGCTGAAGGCCAGGGCAGTC...
ENST00000476698.1:n.428+70_428+71insGTTTGGGCTGAAGGCCAGGGCAGTCTCGCTGG
NM_000030.2:c.776+70_776+71insGTTTGGGCTGAAGGCCAGGGCAGTCTCGCTGG	NP_000021.1:n.776+70_776+71insGTTTGGGCTGAAGGCCAGGGCAGTCTCGCTG...
NM_000030.3:c.776+70_776+71insGTTTGGGCTGAAGGCCAGGGCAGTCTCGCTGG MANE Select	NP_000021.1:n.776+70_776+71insGTTTGGGCTGAAGGCCAGGGCAGTCTCGCTG...