Canonical Allele Identifier: CA16043717
Gene: NEXMIF HGNC NCBI

Linked Data

ClinVar Variation Id: 374404
ClinVar RCV Id: RCV000414773
dbSNP Id: rs1057518730
MyVariant Identifiers: chrX:g.73963015_73963016del (hg19) chrX:g.74743180_74743181del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74743181_74743182del , CM000685.2:g.74743181_74743182del GRCh38
NC_000023.10:g.73963016_73963017del , CM000685.1:g.73963016_73963017del GRCh37
NC_000023.9:g.73879741_73879742del NCBI36
NG_027726.1:g.187272_187273del

Transcript Alleles

HGVS Amino-acid change
ENST00000055682.12:c.1376_1377del MANE Select ENSP00000055682.5:p.Cys459Ter
ENST00000616200.2:c.1376_1377del ENSP00000480284.1:p.Cys459Ter
ENST00000642681.2:c.1376_1377del ENSP00000495800.1:p.Cys459Ter
ENST00000055682.10:c.1376_1377del ENSP00000055682.5:p.Cys459Ter
ENST00000616200.1:c.1376_1377del ENSP00000480284.1:p.Cys459Ter
NM_001008537.2:c.1376_1377del NP_001008537.1:p.Cys459Ter
XM_011530935.1:c.1376_1377del XP_011529237.1:p.Cys459Ter
NM_001008537.3:c.1376_1377del MANE Select NP_001008537.1:p.Cys459Ter
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