Canonical Allele Identifier: CA2580615896

Gene: KCTD7

Linked Data

• ClinVar Variation Id: 2502292
• ClinVar RCV Id: RCV003228711

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66633337_66633344del , CM000669.2:g.66633337_66633344del	GRCh38
NC_000007.13:g.66098324_66098331del , CM000669.1:g.66098324_66098331del	GRCh37
NC_000007.12:g.65735759_65735766del	NCBI36
NG_028110.1:g.9457_9464del
NG_028110.2:g.9457_9464del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275532.8:c.207_214del	ENSP00000275532.4:p.Cys71ArgfsTer?
ENST00000449064.6:c.185_192del
ENST00000503687.2:c.144+4129_144+4136del	ENSP00000421074.1:n.144+4129_144+4136del
ENST00000638524.1:c.139+4129_139+4136del
ENST00000638540.1:c.118+4129_118+4136del
ENST00000639828.2:c.207_214del MANE Select	ENSP00000492240.1:p.Cys71ArgfsTer?
ENST00000639879.1:c.207_214del	ENSP00000492161.1:p.Cys71ArgfsTer?
ENST00000640234.1:c.77_84del
ENST00000640385.1:c.207_214del	ENSP00000491193.1:p.Cys71ArgfsTer?
ENST00000640851.1:c.207_214del	ENSP00000492577.1:p.Cys71ArgfsTer?
ENST00000275532.7:c.207_214del	ENSP00000275532.3:p.Cys71ArgfsTer?
ENST00000443322.1:c.207_214del	ENSP00000411624.1:p.Cys71ArgfsTer?
ENST00000449064.5:c.144+4129_144+4136del	ENSP00000388463.1:n.144+4129_144+4136del
ENST00000503687.1:c.144+4129_144+4136del	ENSP00000421074.1:n.144+4129_144+4136del
NM_001167961.2:c.207_214del	NP_001161433.1:p.Cys71ArgfsTer?
NM_153033.4:c.207_214del	NP_694578.1:p.Cys71ArgfsTer?
NM_153033.5:c.207_214del MANE Select	NP_694578.1:p.Cys71ArgfsTer?