Canonical Allele Identifier: CA2420206927

Gene: ARX

Linked Data

• dbSNP Id: rs2048680577

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25006938_25006939insT , CM000685.2:g.25006938_25006939insT	GRCh38
NC_000023.10:g.25025055_25025056insT , CM000685.1:g.25025055_25025056insT	GRCh37
NC_000023.9:g.24934976_24934977insT	NCBI36
NG_008281.1:g.14010_14011insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.1448+172_1448+173insA MANE Select	ENSP00000368332.4:n.1448+172_1448+173insA
ENST00000637993.1:c.61+172_61+173insA
ENST00000379044.4:c.1448+172_1448+173insA	ENSP00000368332.4:n.1448+172_1448+173insA
NM_139058.2:c.1448+172_1448+173insA	NP_620689.1:n.1448+172_1448+173insA
NM_139058.3:c.1448+172_1448+173insA MANE Select	NP_620689.1:n.1448+172_1448+173insA