Canonical Allele Identifier: CA2664008155

Gene: AGXT

Linked Data

• gnomAD v4: 2-240874125-C-CGTGGCGGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240874126_240874127insTGGCGGGTG , CM000664.2:g.240874126_240874127insTGGCGGGTG	GRCh38
NC_000002.11:g.241813543_241813544insTGGCGGGTG , CM000664.1:g.241813543_241813544insTGGCGGGTG	GRCh37
NC_000002.10:g.241462216_241462217insTGGCGGGTG	NCBI36
NG_008005.1:g.10382_10383insTGGCGGGTG

Transcript Alleles

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