Canonical Allele Identifier: CA641364631

Gene: ARX

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25013360_25013371dup , CM000685.2:g.25013360_25013371dup	GRCh38
NC_000023.10:g.25031477_25031488dup , CM000685.1:g.25031477_25031488dup	GRCh37
NC_000023.9:g.24941398_24941409dup	NCBI36
NG_008281.1:g.7579_7590dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.625_636dup MANE Select	ENSP00000368332.4:p.Gly212_Ser213insGlyGlyProGly
ENST00000379044.4:c.625_636dup	ENSP00000368332.4:p.Gly212_Ser213insGlyGlyProGly
NM_139058.2:c.625_636dup	NP_620689.1:p.Gly212_Ser213insGlyGlyProGly
NM_139058.3:c.625_636dup MANE Select	NP_620689.1:p.Gly212_Ser213insGlyGlyProGly