Canonical Allele Identifier: CA641005884

Gene: ARX

Linked Data

• dbSNP Id: rs1490140276
• gnomAD v2: X-25025073-TCAA-T
• MyVariant Identifiers: chrX:g.25025074_25025076del (hg19) ; chrX:g.25006957_25006959del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25006957_25006959del , CM000685.2:g.25006957_25006959del	GRCh38
NC_000023.10:g.25025074_25025076del , CM000685.1:g.25025074_25025076del	GRCh37
NC_000023.9:g.24934995_24934997del	NCBI36
NG_008281.1:g.13990_13992del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.1448+152_1448+154del MANE Select	ENSP00000368332.4:n.1448+152_1448+154del
ENST00000637993.1:c.61+152_61+154del
ENST00000379044.4:c.1448+152_1448+154del	ENSP00000368332.4:n.1448+152_1448+154del
NM_139058.2:c.1448+152_1448+154del	NP_620689.1:n.1448+152_1448+154del
NM_139058.3:c.1448+152_1448+154del MANE Select	NP_620689.1:n.1448+152_1448+154del