Canonical Allele Identifier: CA841292579

Gene: KCTD7

Linked Data

• ClinVar Variation Id: 3008500
• ClinVar RCV Id: RCV003867163
• dbSNP Id: rs1179207904
• gnomAD v4: 7-66633267-CT-C
• MyVariant Identifiers: chr7:g.66098255del (hg19) ; chr7:g.66633268del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66633270del , CM000669.2:g.66633270del	GRCh38
NC_000007.13:g.66098257del , CM000669.1:g.66098257del	GRCh37
NC_000007.12:g.65735692del	NCBI36
NG_028110.1:g.9390del
NG_028110.2:g.9390del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275532.8:c.145-5del	ENSP00000275532.4:n.145-5del
ENST00000449064.6:c.123-5del
ENST00000503687.2:c.144+4062del	ENSP00000421074.1:n.144+4062del
ENST00000638524.1:c.139+4062del
ENST00000638540.1:c.118+4062del
ENST00000639828.2:c.145-5del MANE Select	ENSP00000492240.1:n.145-5del
ENST00000639879.1:c.145-5del	ENSP00000492161.1:n.145-5del
ENST00000640234.1:c.15-5del
ENST00000640385.1:c.145-5del	ENSP00000491193.1:n.145-5del
ENST00000640851.1:c.145-5del	ENSP00000492577.1:n.145-5del
ENST00000275532.7:c.145-5del	ENSP00000275532.3:n.145-5del
ENST00000443322.1:c.145-5del	ENSP00000411624.1:n.145-5del
ENST00000449064.5:c.144+4062del	ENSP00000388463.1:n.144+4062del
ENST00000503687.1:c.144+4062del	ENSP00000421074.1:n.144+4062del
NM_001167961.2:c.145-5del	NP_001161433.1:n.145-5del
NM_153033.4:c.145-5del	NP_694578.1:n.145-5del
NM_153033.5:c.145-5del MANE Select	NP_694578.1:n.145-5del