Canonical Allele Identifier: CA1714174457

Gene: KCTD7

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66633301_66633302delinsCG , CM000669.2:g.66633301_66633302delinsCG	GRCh38
NC_000007.13:g.66098288_66098289delinsCG , CM000669.1:g.66098288_66098289delinsCG	GRCh37
NC_000007.12:g.65735723_65735724delinsCG	NCBI36
NG_028110.1:g.9421_9422delinsCG
NG_028110.2:g.9421_9422delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275532.8:c.171_172delinsCG	ENSP00000275532.4:p.Ile57=
ENST00000449064.6:c.149_150delinsCG
ENST00000503687.2:c.144+4093_144+4094delinsCG	ENSP00000421074.1:n.144+4093_144+4094delinsCG
ENST00000638524.1:c.139+4093_139+4094delinsCG
ENST00000638540.1:c.118+4093_118+4094delinsCG
ENST00000639828.2:c.171_172delinsCG MANE Select	ENSP00000492240.1:p.Ile57=
ENST00000639879.1:c.171_172delinsCG	ENSP00000492161.1:p.Ile57=
ENST00000640234.1:c.41_42delinsCG
ENST00000640385.1:c.171_172delinsCG	ENSP00000491193.1:p.Ile57=
ENST00000640851.1:c.171_172delinsCG	ENSP00000492577.1:p.Ile57=
ENST00000275532.7:c.171_172delinsCG	ENSP00000275532.3:p.Ile57=
ENST00000443322.1:c.171_172delinsCG	ENSP00000411624.1:p.Ile57=
ENST00000449064.5:c.144+4093_144+4094delinsCG	ENSP00000388463.1:n.144+4093_144+4094delinsCG
ENST00000503687.1:c.144+4093_144+4094delinsCG	ENSP00000421074.1:n.144+4093_144+4094delinsCG
NM_001167961.2:c.171_172delinsCG	NP_001161433.1:p.Ile57=
NM_153033.4:c.171_172delinsCG	NP_694578.1:p.Ile57=
NM_153033.5:c.171_172delinsCG MANE Select	NP_694578.1:p.Ile57=