Canonical Allele Identifier: CA259937
Gene: KIF7 HGNC NCBI

Linked Data

ClinVar Variation Id: 30898
ClinVar RCV Id: RCV000023884
dbSNP Id: rs797044463
gnomAD v2: 15-90192540-C-CA
gnomAD v3: 15-89649309-C-CA
gnomAD v4: 15-89649309-C-CA
MyVariant Identifiers: chr15:g.90192541dupA (hg19) chr15:g.90192540_90192541insA (hg19) chr15:g.89649310dupA (hg38) chr15:g.89649309_89649310insA (hg38)
PubMed: PMID:21552264
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89649310dup , CM000677.2:g.89649310dup GRCh38
NC_000015.9:g.90192541dup , CM000677.1:g.90192541dup GRCh37
NC_000015.8:g.87993545dup NCBI36
NG_030338.1:g.11142dup

Transcript Alleles

HGVS Amino-acid change
ENST00000696512.1:c.710dup ENSP00000512678.1:p.Glu238GlyfsTer19
ENST00000394412.8:c.587dup MANE Select ENSP00000377934.3:p.Glu197GlyfsTer19
ENST00000394412.7:c.587dup ENSP00000377934.3:p.Glu197GlyfsTer19
ENST00000445906.1:c.*246dup ENSP00000395906.1:n.*246dup
NM_198525.2:c.587dup NP_940927.2:p.Glu197GlyfsTer19
XM_005254902.2:c.587dup XP_005254959.1:p.Glu197GlyfsTer19
XM_011521531.1:c.710dup XP_011519833.1:p.Glu238GlyfsTer19
XM_011521532.1:c.710dup XP_011519834.1:p.Glu238GlyfsTer19
XM_011521533.1:c.710dup XP_011519835.1:p.Glu238GlyfsTer19
XM_011521534.1:c.710dup XP_011519836.1:p.Glu238GlyfsTer19
XM_011521535.1:c.710dup XP_011519837.1:p.Glu238GlyfsTer19
XM_011521536.1:c.710dup XP_011519838.1:p.Glu238GlyfsTer19
XM_011521537.1:c.710dup XP_011519839.1:p.Glu238GlyfsTer19
XM_011521531.2:c.710dup XP_011519833.1:p.Glu238GlyfsTer19
NM_198525.3:c.587dup MANE Select NP_940927.2:p.Glu197GlyfsTer19
Search 100 bp 5'
Search 100 bp 3'