Canonical Allele Identifier: CA2420207051
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs398124508
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25007248_25007259dup , CM000685.2:g.25007248_25007259dup GRCh38
NC_000023.10:g.25025365_25025376dup , CM000685.1:g.25025365_25025376dup GRCh37
NC_000023.9:g.24935286_24935297dup NCBI36
NG_008281.1:g.13699_13710dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1309_1320dup MANE Select ENSP00000368332.4:p.Ala440_Phe441insAlaAlaAlaAla
ENST00000379044.4:c.1309_1320dup ENSP00000368332.4:p.Ala440_Phe441insAlaAlaAlaAla
NM_139058.2:c.1309_1320dup NP_620689.1:p.Ala440_Phe441insAlaAlaAlaAla
NM_139058.3:c.1309_1320dup MANE Select NP_620689.1:p.Ala440_Phe441insAlaAlaAlaAla
Search 100 bp 5'
Search 100 bp 3'