Canonical Allele Identifier: CA16043716
Gene: NEXMIF HGNC NCBI

Linked Data

ClinVar Variation Id: 374403
ClinVar RCV Id: RCV000415267
dbSNP Id: rs1057518728
MyVariant Identifiers: chrX:g.73960144dupA (hg19) chrX:g.73960143_73960144insA (hg19) chrX:g.74740309dupA (hg38) chrX:g.74740308_74740309insA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74740309dup , CM000685.2:g.74740309dup GRCh38
NC_000023.10:g.73960144dup , CM000685.1:g.73960144dup GRCh37
NC_000023.9:g.73876869dup NCBI36
NG_027726.1:g.190144dup

Transcript Alleles

HGVS Amino-acid change
ENST00000055682.12:c.4248dup MANE Select ENSP00000055682.5:p.Gly1417TrpfsTer3
ENST00000616200.2:c.4248dup ENSP00000480284.1:p.Gly1417TrpfsTer3
ENST00000642681.2:c.4248dup ENSP00000495800.1:p.Gly1417TrpfsTer3
ENST00000055682.10:c.4248dup ENSP00000055682.5:p.Gly1417TrpfsTer3
ENST00000424929.1:c.52dup
ENST00000616200.1:c.4248dup ENSP00000480284.1:p.Gly1417TrpfsTer3
NM_001008537.2:c.4248dup NP_001008537.1:p.Gly1417TrpfsTer3
XM_011530935.1:c.4248dup XP_011529237.1:p.Gly1417TrpfsTer3
NM_001008537.3:c.4248dup MANE Select NP_001008537.1:p.Gly1417TrpfsTer3
Search 100 bp 5'
Search 100 bp 3'