Canonical Allele Identifier: CA1102440559

Gene: KCTD7

Linked Data

• gnomAD v3: 7-66633622-C-CTTTTTTTGTTTT
• gnomAD v4: 7-66633622-C-CTTTTTTTGTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66633622_66633623insTTTTTTTGTTTT , CM000669.2:g.66633622_66633623insTTTTTTTGTTTT	GRCh38
NC_000007.13:g.66098609_66098610insTTTTTTTGTTTT , CM000669.1:g.66098609_66098610insTTTTTTTGTTTT	GRCh37
NC_000007.12:g.65736044_65736045insTTTTTTTGTTTT	NCBI36
NG_028110.1:g.9742_9743insTTTTTTTGTTTT
NG_028110.2:g.9742_9743insTTTTTTTGTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275532.8:c.314+178_314+179insTTTTTTTGTTTT	ENSP00000275532.4:n.314+178_314+179insTTTTTTTGTTTT
ENST00000449064.6:c.292+178_292+179insTTTTTTTGTTTT
ENST00000503687.2:c.144+4414_144+4415insTTTTTTTGTTTT	ENSP00000421074.1:n.144+4414_144+4415insTTTTTTTGTTTT
ENST00000638524.1:c.139+4414_139+4415insTTTTTTTGTTTT
ENST00000638540.1:c.118+4414_118+4415insTTTTTTTGTTTT
ENST00000639828.2:c.314+178_314+179insTTTTTTTGTTTT MANE Select	ENSP00000492240.1:n.314+178_314+179insTTTTTTTGTTTT
ENST00000639879.1:c.314+178_314+179insTTTTTTTGTTTT	ENSP00000492161.1:n.314+178_314+179insTTTTTTTGTTTT
ENST00000640234.1:c.184+178_184+179insTTTTTTTGTTTT
ENST00000640385.1:c.314+178_314+179insTTTTTTTGTTTT	ENSP00000491193.1:n.314+178_314+179insTTTTTTTGTTTT
ENST00000640851.1:c.314+178_314+179insTTTTTTTGTTTT	ENSP00000492577.1:n.314+178_314+179insTTTTTTTGTTTT
ENST00000275532.7:c.314+178_314+179insTTTTTTTGTTTT	ENSP00000275532.3:n.314+178_314+179insTTTTTTTGTTTT
ENST00000443322.1:c.314+178_314+179insTTTTTTTGTTTT	ENSP00000411624.1:n.314+178_314+179insTTTTTTTGTTTT
ENST00000449064.5:c.144+4414_144+4415insTTTTTTTGTTTT	ENSP00000388463.1:n.144+4414_144+4415insTTTTTTTGTTTT
ENST00000503687.1:c.144+4414_144+4415insTTTTTTTGTTTT	ENSP00000421074.1:n.144+4414_144+4415insTTTTTTTGTTTT
NM_001167961.2:c.314+178_314+179insTTTTTTTGTTTT	NP_001161433.1:n.314+178_314+179insTTTTTTTGTTTT
NM_153033.4:c.314+178_314+179insTTTTTTTGTTTT	NP_694578.1:n.314+178_314+179insTTTTTTTGTTTT
NM_153033.5:c.314+178_314+179insTTTTTTTGTTTT MANE Select	NP_694578.1:n.314+178_314+179insTTTTTTTGTTTT