Canonical Allele Identifier: CA2664008159

Gene: AGXT

Linked Data

• gnomAD v4: 2-240874125-C-CGCGGCGG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240874126_240874127insCGGCGGG , CM000664.2:g.240874126_240874127insCGGCGGG	GRCh38
NC_000002.11:g.241813543_241813544insCGGCGGG , CM000664.1:g.241813543_241813544insCGGCGGG	GRCh37
NC_000002.10:g.241462216_241462217insCGGCGGG	NCBI36
NG_008005.1:g.10382_10383insCGGCGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.680+64_680+65insCGGCGGG MANE Select	ENSP00000302620.3:n.680+64_680+65insCGGCGGG
ENST00000307503.3:c.680+64_680+65insCGGCGGG	ENSP00000302620.3:n.680+64_680+65insCGGCGGG
ENST00000476698.1:n.333-983_333-982insCGGCGGG
NM_000030.2:c.680+64_680+65insCGGCGGG	NP_000021.1:n.680+64_680+65insCGGCGGG
NM_000030.3:c.680+64_680+65insCGGCGGG MANE Select	NP_000021.1:n.680+64_680+65insCGGCGGG