Canonical Allele Identifier: CA16043267

Gene: ARX

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25004760_25004766dup , CM000685.2:g.25004760_25004766dup	GRCh38
NC_000023.10:g.25022877_25022883dup , CM000685.1:g.25022877_25022883dup	GRCh37
NC_000023.9:g.24932798_24932804dup	NCBI36
NG_008281.1:g.16183_16189dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.1593_1599dup MANE Select	ENSP00000368332.4:p.Ala534HisfsTer?
ENST00000379044.4:c.1593_1599dup	ENSP00000368332.4:p.Ala534HisfsTer?
NM_139058.2:c.1593_1599dup	NP_620689.1:p.Ala534HisfsTer?
NM_139058.3:c.1593_1599dup MANE Select	NP_620689.1:p.Ala534HisfsTer?