Canonical Allele Identifier: CA2420206961
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs2048680982

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25007039del , CM000685.2:g.25007039del GRCh38
NC_000023.10:g.25025156del , CM000685.1:g.25025156del GRCh37
NC_000023.9:g.24935077del NCBI36
NG_008281.1:g.13911del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1448+73del MANE Select ENSP00000368332.4:n.1448+73del
ENST00000637993.1:c.61+73del
ENST00000379044.4:c.1448+73del ENSP00000368332.4:n.1448+73del
NM_139058.2:c.1448+73del NP_620689.1:n.1448+73del
NM_139058.3:c.1448+73del MANE Select NP_620689.1:n.1448+73del