Canonical Allele Identifier: CA1131755508

Gene: ARX

Linked Data

• gnomAD v3: X-25006955-C-CTTTTT
• gnomAD v4: X-25006955-C-CTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25006956_25006957insTTTTT , CM000685.2:g.25006956_25006957insTTTTT	GRCh38
NC_000023.10:g.25025073_25025074insTTTTT , CM000685.1:g.25025073_25025074insTTTTT	GRCh37
NC_000023.9:g.24934994_24934995insTTTTT	NCBI36
NG_008281.1:g.13993_13994insAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.1448+155_1448+156insAAAAA MANE Select	ENSP00000368332.4:n.1448+155_1448+156insAAAAA
ENST00000637993.1:c.61+155_61+156insAAAAA
ENST00000379044.4:c.1448+155_1448+156insAAAAA	ENSP00000368332.4:n.1448+155_1448+156insAAAAA
NM_139058.2:c.1448+155_1448+156insAAAAA	NP_620689.1:n.1448+155_1448+156insAAAAA
NM_139058.3:c.1448+155_1448+156insAAAAA MANE Select	NP_620689.1:n.1448+155_1448+156insAAAAA