Canonical Allele Identifier: CA841292957

Gene: KCTD7

Linked Data

• dbSNP Id: rs200130485
• gnomAD v3: 7-66633593-A-ATTT
• gnomAD v4: 7-66633593-A-ATTT
• MyVariant Identifiers: chr7:g.66098580_66098581insTTT (hg19) ; chr7:g.66633593_66633594insTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66633608_66633610dup , CM000669.2:g.66633608_66633610dup	GRCh38
NC_000007.13:g.66098595_66098597dup , CM000669.1:g.66098595_66098597dup	GRCh37
NC_000007.12:g.65736030_65736032dup	NCBI36
NG_028110.1:g.9728_9730dup
NG_028110.2:g.9728_9730dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275532.8:c.314+164_314+166dup	ENSP00000275532.4:n.314+164_314+166dup
ENST00000449064.6:c.292+164_292+166dup
ENST00000503687.2:c.144+4400_144+4402dup	ENSP00000421074.1:n.144+4400_144+4402dup
ENST00000638524.1:c.139+4400_139+4402dup
ENST00000638540.1:c.118+4400_118+4402dup
ENST00000639828.2:c.314+164_314+166dup MANE Select	ENSP00000492240.1:n.314+164_314+166dup
ENST00000639879.1:c.314+164_314+166dup	ENSP00000492161.1:n.314+164_314+166dup
ENST00000640234.1:c.184+164_184+166dup
ENST00000640385.1:c.314+164_314+166dup	ENSP00000491193.1:n.314+164_314+166dup
ENST00000640851.1:c.314+164_314+166dup	ENSP00000492577.1:n.314+164_314+166dup
ENST00000275532.7:c.314+164_314+166dup	ENSP00000275532.3:n.314+164_314+166dup
ENST00000443322.1:c.314+164_314+166dup	ENSP00000411624.1:n.314+164_314+166dup
ENST00000449064.5:c.144+4400_144+4402dup	ENSP00000388463.1:n.144+4400_144+4402dup
ENST00000503687.1:c.144+4400_144+4402dup	ENSP00000421074.1:n.144+4400_144+4402dup
NM_001167961.2:c.314+164_314+166dup	NP_001161433.1:n.314+164_314+166dup
NM_153033.4:c.314+164_314+166dup	NP_694578.1:n.314+164_314+166dup
NM_153033.5:c.314+164_314+166dup MANE Select	NP_694578.1:n.314+164_314+166dup