Canonical Allele Identifier: CA2683113789

Gene: KCTD7

Linked Data

• gnomAD v4: 7-66633571-ATGGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66633573_66633576del , CM000669.2:g.66633573_66633576del	GRCh38
NC_000007.13:g.66098560_66098563del , CM000669.1:g.66098560_66098563del	GRCh37
NC_000007.12:g.65735995_65735998del	NCBI36
NG_028110.1:g.9693_9696del
NG_028110.2:g.9693_9696del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275532.8:c.314+129_314+132del	ENSP00000275532.4:n.314+129_314+132del
ENST00000449064.6:c.292+129_292+132del
ENST00000503687.2:c.144+4365_144+4368del	ENSP00000421074.1:n.144+4365_144+4368del
ENST00000638524.1:c.139+4365_139+4368del
ENST00000638540.1:c.118+4365_118+4368del
ENST00000639828.2:c.314+129_314+132del MANE Select	ENSP00000492240.1:n.314+129_314+132del
ENST00000639879.1:c.314+129_314+132del	ENSP00000492161.1:n.314+129_314+132del
ENST00000640234.1:c.184+129_184+132del
ENST00000640385.1:c.314+129_314+132del	ENSP00000491193.1:n.314+129_314+132del
ENST00000640851.1:c.314+129_314+132del	ENSP00000492577.1:n.314+129_314+132del
ENST00000275532.7:c.314+129_314+132del	ENSP00000275532.3:n.314+129_314+132del
ENST00000443322.1:c.314+129_314+132del	ENSP00000411624.1:n.314+129_314+132del
ENST00000449064.5:c.144+4365_144+4368del	ENSP00000388463.1:n.144+4365_144+4368del
ENST00000503687.1:c.144+4365_144+4368del	ENSP00000421074.1:n.144+4365_144+4368del
NM_001167961.2:c.314+129_314+132del	NP_001161433.1:n.314+129_314+132del
NM_153033.4:c.314+129_314+132del	NP_694578.1:n.314+129_314+132del
NM_153033.5:c.314+129_314+132del MANE Select	NP_694578.1:n.314+129_314+132del