Canonical Allele Identifier: CA915951284
Gene: NEXMIF HGNC NCBI

Linked Data

ClinVar Variation Id: 817190
ClinVar RCV Id: RCV001008300
dbSNP Id: rs1602211044
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74740977dup , CM000685.2:g.74740977dup GRCh38
NC_000023.10:g.73960812dup , CM000685.1:g.73960812dup GRCh37
NC_000023.9:g.73877537dup NCBI36
NG_027726.1:g.189480dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000055682.12:c.3584dup MANE Select ENSP00000055682.5:p.Asn1195LysfsTer10
ENST00000616200.2:c.3584dup ENSP00000480284.1:p.Asn1195LysfsTer10
ENST00000642681.2:c.3584dup ENSP00000495800.1:p.Asn1195LysfsTer10
ENST00000055682.10:c.3584dup ENSP00000055682.5:p.Asn1195LysfsTer10
ENST00000616200.1:c.3584dup ENSP00000480284.1:p.Asn1195LysfsTer10
NM_001008537.2:c.3584dup NP_001008537.1:p.Asn1195LysfsTer10
XM_011530935.1:c.3584dup XP_011529237.1:p.Asn1195LysfsTer10
NM_001008537.3:c.3584dup MANE Select NP_001008537.1:p.Asn1195LysfsTer10
Search 100 bp 5'
Search 100 bp 3'