Canonical Allele Identifier: CA575145174

Gene: KCTD7

Linked Data

• dbSNP Id: rs1158934448
• gnomAD v2: 7-66098601-A-ATTTT
• gnomAD v3: 7-66633614-A-ATTTT
• gnomAD v4: 7-66633614-A-ATTTT
• MyVariant Identifiers: chr7:g.66098601_66098602insTTTT (hg19) ; chr7:g.66633614_66633615insTTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66633614_66633615insTTTT , CM000669.2:g.66633614_66633615insTTTT	GRCh38
NC_000007.13:g.66098601_66098602insTTTT , CM000669.1:g.66098601_66098602insTTTT	GRCh37
NC_000007.12:g.65736036_65736037insTTTT	NCBI36
NG_028110.1:g.9734_9735insTTTT
NG_028110.2:g.9734_9735insTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275532.8:c.314+170_314+171insTTTT	ENSP00000275532.4:n.314+170_314+171insTTTT
ENST00000449064.6:c.292+170_292+171insTTTT
ENST00000503687.2:c.144+4406_144+4407insTTTT	ENSP00000421074.1:n.144+4406_144+4407insTTTT
ENST00000638524.1:c.139+4406_139+4407insTTTT
ENST00000638540.1:c.118+4406_118+4407insTTTT
ENST00000639828.2:c.314+170_314+171insTTTT MANE Select	ENSP00000492240.1:n.314+170_314+171insTTTT
ENST00000639879.1:c.314+170_314+171insTTTT	ENSP00000492161.1:n.314+170_314+171insTTTT
ENST00000640234.1:c.184+170_184+171insTTTT
ENST00000640385.1:c.314+170_314+171insTTTT	ENSP00000491193.1:n.314+170_314+171insTTTT
ENST00000640851.1:c.314+170_314+171insTTTT	ENSP00000492577.1:n.314+170_314+171insTTTT
ENST00000275532.7:c.314+170_314+171insTTTT	ENSP00000275532.3:n.314+170_314+171insTTTT
ENST00000443322.1:c.314+170_314+171insTTTT	ENSP00000411624.1:n.314+170_314+171insTTTT
ENST00000449064.5:c.144+4406_144+4407insTTTT	ENSP00000388463.1:n.144+4406_144+4407insTTTT
ENST00000503687.1:c.144+4406_144+4407insTTTT	ENSP00000421074.1:n.144+4406_144+4407insTTTT
NM_001167961.2:c.314+170_314+171insTTTT	NP_001161433.1:n.314+170_314+171insTTTT
NM_153033.4:c.314+170_314+171insTTTT	NP_694578.1:n.314+170_314+171insTTTT
NM_153033.5:c.314+170_314+171insTTTT MANE Select	NP_694578.1:n.314+170_314+171insTTTT