Canonical Allele Identifier: CA2695232858

Gene: ARX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25012982delinsGG , CM000685.2:g.25012982delinsGG	GRCh38
NC_000023.10:g.25031099delinsGG , CM000685.1:g.25031099delinsGG	GRCh37
NC_000023.9:g.24941020delinsGG	NCBI36
NG_008281.1:g.7967delinsCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.1013delinsCC MANE Select	ENSP00000368332.4:p.Tyr338SerfsTer?
ENST00000379044.4:c.1013delinsCC	ENSP00000368332.4:p.Tyr338SerfsTer?
NM_139058.2:c.1013delinsCC	NP_620689.1:p.Tyr338SerfsTer?
NM_139058.3:c.1013delinsCC MANE Select	NP_620689.1:p.Tyr338SerfsTer?