Canonical Allele Identifier: CA2420207157

Gene: ARX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25007501_25007502delinsAC , CM000685.2:g.25007501_25007502delinsAC	GRCh38
NC_000023.10:g.25025618_25025619delinsAC , CM000685.1:g.25025618_25025619delinsAC	GRCh37
NC_000023.9:g.24935539_24935540delinsAC	NCBI36
NG_008281.1:g.13447_13448delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.1120-63_1120-62delinsGT MANE Select	ENSP00000368332.4:n.1120-63_1120-62delinsGT
ENST00000379044.4:c.1120-63_1120-62delinsGT	ENSP00000368332.4:n.1120-63_1120-62delinsGT
NM_139058.2:c.1120-63_1120-62delinsGT	NP_620689.1:n.1120-63_1120-62delinsGT
NM_139058.3:c.1120-63_1120-62delinsGT MANE Select	NP_620689.1:n.1120-63_1120-62delinsGT