Canonical Allele Identifier: CA2420209036
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs2048707964
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25012886_25012907del , CM000685.2:g.25012886_25012907del GRCh38
NC_000023.10:g.25031003_25031024del , CM000685.1:g.25031003_25031024del GRCh37
NC_000023.9:g.24940924_24940945del NCBI36
NG_008281.1:g.8042_8063del

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1073+15_1073+36del MANE Select ENSP00000368332.4:n.1073+15_1073+36del
ENST00000379044.4:c.1073+15_1073+36del ENSP00000368332.4:n.1073+15_1073+36del
NM_139058.2:c.1073+15_1073+36del NP_620689.1:n.1073+15_1073+36del
NM_139058.3:c.1073+15_1073+36del MANE Select NP_620689.1:n.1073+15_1073+36del
Search 100 bp 5'
Search 100 bp 3'