Canonical Allele Identifier: CA327732598
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs1056432165
gnomAD v2: X-25024978-TCGGTTGTCA-T
gnomAD v3: X-25006861-TCGGTTGTCA-T
gnomAD v4: X-25006861-TCGGTTGTCA-T
MyVariant Identifiers: chrX:g.25024979_25024987del (hg19) chrX:g.25006862_25006870del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25006870_25006878del , CM000685.2:g.25006870_25006878del GRCh38
NC_000023.10:g.25024987_25024995del , CM000685.1:g.25024987_25024995del GRCh37
NC_000023.9:g.24934908_24934916del NCBI36
NG_008281.1:g.14079_14087del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1448+241_1448+249del MANE Select ENSP00000368332.4:n.1448+241_1448+249del
ENST00000637993.1:c.61+241_62-235del
ENST00000379044.4:c.1448+241_1448+249del ENSP00000368332.4:n.1448+241_1448+249del
NM_139058.2:c.1448+241_1448+249del NP_620689.1:n.1448+241_1448+249del
NM_139058.3:c.1448+241_1448+249del MANE Select NP_620689.1:n.1448+241_1448+249del
Search 100 bp 5'
Search 100 bp 3'