Canonical Allele Identifier: CA2693353721

Gene: ARX

Linked Data

• gnomAD v4: X-25013538-CGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25013539_25013540del , CM000685.2:g.25013539_25013540del	GRCh38
NC_000023.10:g.25031656_25031657del , CM000685.1:g.25031656_25031657del	GRCh37
NC_000023.9:g.24941577_24941578del	NCBI36
NG_008281.1:g.7409_7410del

Transcript Alleles

HGVS	Amino-acid change
ENST00000379044.5:c.455_456del MANE Select	ENSP00000368332.4:p.Ala152GlyfsTer?
ENST00000379044.4:c.455_456del	ENSP00000368332.4:p.Ala152GlyfsTer?
NM_139058.2:c.455_456del	NP_620689.1:p.Ala152GlyfsTer?
NM_139058.3:c.455_456del MANE Select	NP_620689.1:p.Ala152GlyfsTer?