Canonical Allele Identifier: CA2579637292

Gene: ARX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25007189_25007190insAGCGGGGCGC , CM000685.2:g.25007189_25007190insAGCGGGGCGC	GRCh38
NC_000023.10:g.25025306_25025307insAGCGGGGCGC , CM000685.1:g.25025306_25025307insAGCGGGGCGC	GRCh37
NC_000023.9:g.24935227_24935228insAGCGGGGCGC	NCBI36
NG_008281.1:g.13760_13761insCGCCCCGCTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000379044.5:c.1370_1371insCGCCCCGCTG MANE Select	ENSP00000368332.4:p.Leu462AlafsTer?
ENST00000379044.4:c.1370_1371insCGCCCCGCTG	ENSP00000368332.4:p.Leu462AlafsTer?
NM_139058.2:c.1370_1371insCGCCCCGCTG	NP_620689.1:p.Leu462AlafsTer?
NM_139058.3:c.1370_1371insCGCCCCGCTG MANE Select	NP_620689.1:p.Leu462AlafsTer?