Canonical Allele Identifier: CA2564836661
Gene: ARX HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25015525_25015526del , CM000685.2:g.25015525_25015526del GRCh38
NC_000023.10:g.25033642_25033643del , CM000685.1:g.25033642_25033643del GRCh37
NC_000023.9:g.24943563_24943564del NCBI36
NG_008281.1:g.5423_5424del

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.196+16_196+17del MANE Select ENSP00000368332.4:n.196+16_196+17del
ENST00000379044.4:c.196+16_196+17del ENSP00000368332.4:n.196+16_196+17del
NM_139058.2:c.196+16_196+17del NP_620689.1:n.196+16_196+17del
NM_139058.3:c.196+16_196+17del MANE Select NP_620689.1:n.196+16_196+17del
Search 100 bp 5'
Search 100 bp 3'