Canonical Allele Identifier: CA10575893

Gene: NEXMIF

Linked Data

• ClinVar Variation Id: 224106
• ClinVar RCV Id: RCV000209914
• dbSNP Id: rs875989829
• MyVariant Identifiers: chrX:g.73961392_73961393del (hg19) ; chrX:g.74741557_74741558del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.74741561_74741562del , CM000685.2:g.74741561_74741562del	GRCh38
NC_000023.10:g.73961396_73961397del , CM000685.1:g.73961396_73961397del	GRCh37
NC_000023.9:g.73878121_73878122del	NCBI36
NG_027726.1:g.188895_188896del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000055682.12:c.2999_3000del MANE Select	ENSP00000055682.5:p.Ser1000CysfsTer5
ENST00000616200.2:c.2999_3000del	ENSP00000480284.1:p.Ser1000CysfsTer5
ENST00000642681.2:c.2999_3000del	ENSP00000495800.1:p.Ser1000CysfsTer5
ENST00000055682.10:c.2999_3000del	ENSP00000055682.5:p.Ser1000CysfsTer5
ENST00000616200.1:c.2999_3000del	ENSP00000480284.1:p.Ser1000CysfsTer5
NM_001008537.2:c.2999_3000del	NP_001008537.1:p.Ser1000CysfsTer5
XM_011530935.1:c.2999_3000del	XP_011529237.1:p.Ser1000CysfsTer5
NM_001008537.3:c.2999_3000del MANE Select	NP_001008537.1:p.Ser1000CysfsTer5