Canonical Allele Identifier: CA2420205896
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs2048669105
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004720_25004728dup , CM000685.2:g.25004720_25004728dup GRCh38
NC_000023.10:g.25022837_25022845dup , CM000685.1:g.25022837_25022845dup GRCh37
NC_000023.9:g.24932758_24932766dup NCBI36
NG_008281.1:g.16230_16238dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1640_1648dup MANE Select ENSP00000368332.4:p.Leu549_Asn550insThrGlnLeu
ENST00000379044.4:c.1640_1648dup ENSP00000368332.4:p.Leu549_Asn550insThrGlnLeu
NM_139058.2:c.1640_1648dup NP_620689.1:p.Leu549_Asn550insThrGlnLeu
NM_139058.3:c.1640_1648dup MANE Select NP_620689.1:p.Leu549_Asn550insThrGlnLeu
Search 100 bp 5'
Search 100 bp 3'