Canonical Allele Identifier: CA130027
Gene: KCTD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 37009
ClinVar RCV Id: RCV000030686 RCV001171988
dbSNP Id: rs727502785
MyVariant Identifiers: chr7:g.66103943del (hg19) chr7:g.66638956del (hg38)
PubMed: PMID:22693283
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66638956del , CM000669.2:g.66638956del GRCh38
NC_000007.13:g.66103943del , CM000669.1:g.66103943del GRCh37
NC_000007.12:g.65741378del NCBI36
NG_028110.1:g.15076del
NG_028110.2:g.15076del

Transcript Alleles

HGVS Amino-acid change
ENST00000275532.8:c.554del ENSP00000275532.4:p.Pro185HisfsTer5
ENST00000449064.6:c.505+27del
ENST00000503687.2:c.397+27del ENSP00000421074.1:n.397+27del
ENST00000638524.1:c.419del
ENST00000638540.1:c.398del
ENST00000639828.2:c.594del MANE Select ENSP00000492240.1:p.Ile199SerfsTer?
ENST00000639879.1:c.*457del ENSP00000492161.1:n.*457del
ENST00000640234.1:c.437+27del
ENST00000640385.1:c.594del ENSP00000491193.1:p.Ile199SerfsTer?
ENST00000640601.1:c.101del
ENST00000640851.1:c.567+27del ENSP00000492577.1:n.567+27del
ENST00000275532.7:c.594del ENSP00000275532.3:p.Ile199SerfsTer?
ENST00000443322.1:c.594del ENSP00000411624.1:p.Ile199SerfsTer?
ENST00000503687.1:c.397+27del ENSP00000421074.1:n.397+27del
NM_001167961.2:c.594del NP_001161433.1:p.Ile199SerfsTer?
NM_153033.4:c.594del NP_694578.1:p.Ile199SerfsTer?
NM_153033.5:c.594del MANE Select NP_694578.1:p.Ile199SerfsTer?
Search 100 bp 5'
Search 100 bp 3'