Canonical Allele Identifier: CA2577302640

Gene: AGXT

Linked Data

• gnomAD v4: 2-240874130-C-CGGGAGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240874138_240874139insGGGGAGGGG , CM000664.2:g.240874138_240874139insGGGGAGGGG	GRCh38
NC_000002.11:g.241813555_241813556insGGGGAGGGG , CM000664.1:g.241813555_241813556insGGGGAGGGG	GRCh37
NC_000002.10:g.241462228_241462229insGGGGAGGGG	NCBI36
NG_008005.1:g.10394_10395insGGGGAGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.680+76_680+77insGGGGAGGGG MANE Select	ENSP00000302620.3:n.680+76_680+77insGGGGAGGGG
ENST00000307503.3:c.680+76_680+77insGGGGAGGGG	ENSP00000302620.3:n.680+76_680+77insGGGGAGGGG
ENST00000476698.1:n.333-971_333-970insGGGGAGGGG
NM_000030.2:c.680+76_680+77insGGGGAGGGG	NP_000021.1:n.680+76_680+77insGGGGAGGGG
NM_000030.3:c.680+76_680+77insGGGGAGGGG MANE Select	NP_000021.1:n.680+76_680+77insGGGGAGGGG