Canonical Allele Identifier: CA658659017

Gene: NEXMIF

Linked Data

• ClinVar Variation Id: 474060
• ClinVar RCV Id: RCV000551271
• dbSNP Id: rs1556016529

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.74742389_74742391delinsGT , CM000685.2:g.74742389_74742391delinsGT	GRCh38
NC_000023.10:g.73962224_73962226delinsGT , CM000685.1:g.73962224_73962226delinsGT	GRCh37
NC_000023.9:g.73878949_73878951delinsGT	NCBI36
NG_027726.1:g.188062_188064delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000055682.12:c.2166_2168delinsAC MANE Select	ENSP00000055682.5:p.Phe722LeufsTer7
ENST00000616200.2:c.2166_2168delinsAC	ENSP00000480284.1:p.Phe722LeufsTer7
ENST00000642681.2:c.2166_2168delinsAC	ENSP00000495800.1:p.Phe722LeufsTer7
ENST00000055682.10:c.2166_2168delinsAC	ENSP00000055682.5:p.Phe722LeufsTer7
ENST00000616200.1:c.2166_2168delinsAC	ENSP00000480284.1:p.Phe722LeufsTer7
NM_001008537.2:c.2166_2168delinsAC	NP_001008537.1:p.Phe722LeufsTer7
XM_011530935.1:c.2166_2168delinsAC	XP_011529237.1:p.Phe722LeufsTer7
NM_001008537.3:c.2166_2168delinsAC MANE Select	NP_001008537.1:p.Phe722LeufsTer7