Canonical Allele Identifier: CA2420207098
Gene: ARX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25007371_25007372delinsAG , CM000685.2:g.25007371_25007372delinsAG GRCh38
NC_000023.10:g.25025488_25025489delinsAG , CM000685.1:g.25025488_25025489delinsAG GRCh37
NC_000023.9:g.24935409_24935410delinsAG NCBI36
NG_008281.1:g.13577_13578delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1187_1188delinsCT MANE Select ENSP00000368332.4:p.Pro396=
ENST00000379044.4:c.1187_1188delinsCT ENSP00000368332.4:p.Pro396=
NM_139058.2:c.1187_1188delinsCT NP_620689.1:p.Pro396=
NM_139058.3:c.1187_1188delinsCT MANE Select NP_620689.1:p.Pro396=