Canonical Allele Identifier: CA1102440412

Gene: KCTD7

Linked Data

• gnomAD v3: 7-66633610-TGCCAAAGGAGAC-T
• gnomAD v4: 7-66633610-TGCCAAAGGAGAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66633611_66633622del , CM000669.2:g.66633611_66633622del	GRCh38
NC_000007.13:g.66098598_66098609del , CM000669.1:g.66098598_66098609del	GRCh37
NC_000007.12:g.65736033_65736044del	NCBI36
NG_028110.1:g.9731_9742del
NG_028110.2:g.9731_9742del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275532.8:c.314+167_314+178del	ENSP00000275532.4:n.314+167_314+178del
ENST00000449064.6:c.292+167_292+178del
ENST00000503687.2:c.144+4403_144+4414del	ENSP00000421074.1:n.144+4403_144+4414del
ENST00000638524.1:c.139+4403_139+4414del
ENST00000638540.1:c.118+4403_118+4414del
ENST00000639828.2:c.314+167_314+178del MANE Select	ENSP00000492240.1:n.314+167_314+178del
ENST00000639879.1:c.314+167_314+178del	ENSP00000492161.1:n.314+167_314+178del
ENST00000640234.1:c.184+167_184+178del
ENST00000640385.1:c.314+167_314+178del	ENSP00000491193.1:n.314+167_314+178del
ENST00000640851.1:c.314+167_314+178del	ENSP00000492577.1:n.314+167_314+178del
ENST00000275532.7:c.314+167_314+178del	ENSP00000275532.3:n.314+167_314+178del
ENST00000443322.1:c.314+167_314+178del	ENSP00000411624.1:n.314+167_314+178del
ENST00000449064.5:c.144+4403_144+4414del	ENSP00000388463.1:n.144+4403_144+4414del
ENST00000503687.1:c.144+4403_144+4414del	ENSP00000421074.1:n.144+4403_144+4414del
NM_001167961.2:c.314+167_314+178del	NP_001161433.1:n.314+167_314+178del
NM_153033.4:c.314+167_314+178del	NP_694578.1:n.314+167_314+178del
NM_153033.5:c.314+167_314+178del MANE Select	NP_694578.1:n.314+167_314+178del