Allele Registry

Canonical Allele Identifier: CA315695

Gene: KCTD7 HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr7:g.66638898_66638905del

GRCh37 chr7:g.66103885_66103892del

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000188024

ClinVar Variation:

206016

dbSNP:

796052688

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66638898_66638905del , CM000669.2:g.66638898_66638905del	GRCh38
NC_000007.13:g.66103885_66103892del , CM000669.1:g.66103885_66103892del	GRCh37
NC_000007.12:g.65741320_65741327del	NCBI36
NG_028110.1:g.15018_15025del
NG_028110.2:g.15018_15025del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275532.8:c.496_503del	ENSP00000275532.4:p.Ser166LysfsTer?
ENST00000449064.6:c.474_481del
ENST00000503687.2:c.366_373del	ENSP00000421074.1:p.Pro123ArgfsTer10
ENST00000638524.1:c.361_368del
ENST00000638540.1:c.340_347del
ENST00000639828.2:c.536_543del MANE Select	ENSP00000492240.1:p.Val179GlufsTer22
ENST00000639879.1:c.399_406del	ENSP00000492161.1:n.399_406del
ENST00000640234.1:c.406_413del
ENST00000640385.1:c.536_543del	ENSP00000491193.1:p.Val179GlufsTer22
ENST00000640601.1:c.43_50del
ENST00000640851.1:c.536_543del	ENSP00000492577.1:p.Val179GlufsTer21
ENST00000275532.7:c.536_543del	ENSP00000275532.3:p.Val179GlufsTer22
ENST00000443322.1:c.536_543del	ENSP00000411624.1:p.Val179GlufsTer22
ENST00000449064.5:c.366_373del	ENSP00000388463.1:p.Pro123ArgfsTer?
ENST00000503687.1:c.366_373del	ENSP00000421074.1:p.Pro123ArgfsTer10
NM_001167961.2:c.536_543del	NP_001161433.1:p.Val179GlufsTer22
NM_153033.4:c.536_543del	NP_694578.1:p.Val179GlufsTer22
NM_153033.5:c.536_543del MANE Select	NP_694578.1:p.Val179GlufsTer22

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