Canonical Allele Identifier: CA10053734

Gene: CFAP410

Linked Data

• dbSNP Id: rs762116812
• ExAC: 21:45752989 G / GGGTTC
• gnomAD v2: 21-45752989-G-GGGTTC
• gnomAD v3: 21-44333106-G-GGGTTC
• gnomAD v4: 21-44333106-G-GGGTTC
• MyVariant Identifiers: chr21:g.45752989_45752990insGGTTC (hg19) ; chr21:g.44333106_44333107insGGTTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333106_44333107insGGTTC , CM000683.2:g.44333106_44333107insGGTTC	GRCh38
NC_000021.8:g.45752989_45752990insGGTTC , CM000683.1:g.45752989_45752990insGGTTC	GRCh37
NC_000021.7:g.44577417_44577418insGGTTC	NCBI36
NG_032952.1:g.11296_11297insGAACC

Transcript Alleles

HGVS	Amino-acid change
ENST00000339818.9:c.299_300insGAACC MANE Select	ENSP00000344566.4:p.Cys100TrpfsTer12
ENST00000325223.7:c.299_300insGAACC	ENSP00000317302.7:p.Cys100TrpfsTer12
ENST00000339818.8:c.299_300insGAACC	ENSP00000344566.4:p.Cys100TrpfsTer12
ENST00000397956.7:c.299_300insGAACC	ENSP00000381047.3:p.Cys100TrpfsTer12
ENST00000462742.1:n.2470_2471insGAACC
ENST00000478674.1:n.358_359insGAACC
ENST00000496321.5:n.415_416insGAACC
NM_001271440.1:c.299_300insGAACC	NP_001258369.1:p.Cys100TrpfsTer12
NM_001271441.1:c.299_300insGAACC	NP_001258370.1:p.Cys100TrpfsTer12
NM_001271442.1:c.176_177insGAACC	NP_001258371.1:p.Cys59TrpfsTer12
NM_004928.2:c.299_300insGAACC	NP_004919.1:p.Cys100TrpfsTer12
XM_006724051.2:c.374_375insGAACC	XP_006724114.1:p.Cys125TrpfsTer12
XM_006724052.2:c.374_375insGAACC	XP_006724115.1:p.Cys125TrpfsTer12
XM_006724053.2:c.-26_-25insGAACC	XP_006724116.1:n.-26_-25insGAACC
XR_937571.1:n.502_503insGAACC
XM_006724051.3:c.374_375insGAACC	XP_006724114.1:p.Cys125TrpfsTer12
XM_006724053.3:c.-26_-25insGAACC	XP_006724116.1:n.-26_-25insGAACC
XM_017028470.1:c.503_504insGAACC	XP_016883959.1:p.Cys168TrpfsTer12
XM_017028471.1:c.248_249insGAACC	XP_016883960.1:p.Cys83TrpfsTer12
XM_017028472.1:c.-26_-25insGAACC	XP_016883961.1:n.-26_-25insGAACC
XR_937571.2:n.509_510insGAACC
NM_004928.3:c.299_300insGAACC MANE Select	NP_004919.1:p.Cys100TrpfsTer12
NM_001271440.2:c.299_300insGAACC	NP_001258369.1:p.Cys100TrpfsTer12
NM_001271441.2:c.299_300insGAACC	NP_001258370.1:p.Cys100TrpfsTer12