Canonical Allele Identifier: CA1131755485

Gene: ARX

Linked Data

• gnomAD v3: X-25006939-ATT-A
• gnomAD v4: X-25006939-ATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25006949_25006950del , CM000685.2:g.25006949_25006950del	GRCh38
NC_000023.10:g.25025066_25025067del , CM000685.1:g.25025066_25025067del	GRCh37
NC_000023.9:g.24934987_24934988del	NCBI36
NG_008281.1:g.14008_14009del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.1448+170_1448+171del MANE Select	ENSP00000368332.4:n.1448+170_1448+171del
ENST00000637993.1:c.61+170_61+171del
ENST00000379044.4:c.1448+170_1448+171del	ENSP00000368332.4:n.1448+170_1448+171del
NM_139058.2:c.1448+170_1448+171del	NP_620689.1:n.1448+170_1448+171del
NM_139058.3:c.1448+170_1448+171del MANE Select	NP_620689.1:n.1448+170_1448+171del