Canonical Allele Identifier: CA2420205831
Gene: ARX HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004586_25004588delinsCCT , CM000685.2:g.25004586_25004588delinsCCT GRCh38
NC_000023.10:g.25022703_25022705delinsCCT , CM000685.1:g.25022703_25022705delinsCCT GRCh37
NC_000023.9:g.24932624_24932626delinsCCT NCBI36
NG_008281.1:g.16361_16363delinsAGG

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.*82_*84delinsAGG MANE Select ENSP00000368332.4:n.*82_*84delinsAGG
ENST00000379044.4:c.*82_*84delinsAGG ENSP00000368332.4:n.*82_*84delinsAGG
NM_139058.2:c.*82_*84delinsAGG NP_620689.1:n.*82_*84delinsAGG
NM_139058.3:c.*82_*84delinsAGG MANE Select NP_620689.1:n.*82_*84delinsAGG
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