Canonical Allele Identifier: CA2579637322
Gene: ARX HGNC NCBI

Linked Data

gnomAD v4: X-25007251-G-GGCGGCGGCA
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25007257_25007265dup , CM000685.2:g.25007257_25007265dup GRCh38
NC_000023.10:g.25025374_25025382dup , CM000685.1:g.25025374_25025382dup GRCh37
NC_000023.9:g.24935295_24935303dup NCBI36
NG_008281.1:g.13689_13697dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1299_1307dup MANE Select ENSP00000368332.4:p.Ala436_Ala437insAlaAlaAla
ENST00000379044.4:c.1299_1307dup ENSP00000368332.4:p.Ala436_Ala437insAlaAlaAla
NM_139058.2:c.1299_1307dup NP_620689.1:p.Ala436_Ala437insAlaAlaAla
NM_139058.3:c.1299_1307dup MANE Select NP_620689.1:p.Ala436_Ala437insAlaAlaAla
Search 100 bp 5'
Search 100 bp 3'