Canonical Allele Identifier: CA2693352411

Gene: ARX

Linked Data

• gnomAD v4: X-25004640-CGCGCGGGGCGCGGGTGTGGAGGGCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25004643_25004667del , CM000685.2:g.25004643_25004667del	GRCh38
NC_000023.10:g.25022760_25022784del , CM000685.1:g.25022760_25022784del	GRCh37
NC_000023.9:g.24932681_24932705del	NCBI36
NG_008281.1:g.16284_16308del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.*5_*29del MANE Select	ENSP00000368332.4:n.*5_*29del
ENST00000379044.4:c.*5_*29del	ENSP00000368332.4:n.*5_*29del
NM_139058.2:c.*5_*29del	NP_620689.1:n.*5_*29del
NM_139058.3:c.*5_*29del MANE Select	NP_620689.1:n.*5_*29del