Canonical Allele Identifier: CA638494153

Gene: CFAP410

Linked Data

• ClinVar Variation Id: 1522689
• ClinVar RCV Id: RCV002048732
• dbSNP Id: rs1322189782
• gnomAD v2: 21-45752937-G-GGCGCGGCAGGGT
• gnomAD v3: 21-44333054-G-GGCGCGGCAGGGT
• gnomAD v4: 21-44333054-G-GGCGCGGCAGGGT
• MyVariant Identifiers: chr21:g.45752937_45752938insGCGCGGCAGGGT (hg19) ; chr21:g.44333054_44333055insGCGCGGCAGGGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333059_44333070dup , CM000683.2:g.44333059_44333070dup	GRCh38
NC_000021.8:g.45752942_45752953dup , CM000683.1:g.45752942_45752953dup	GRCh37
NC_000021.7:g.44577370_44577381dup	NCBI36
NG_032952.1:g.11337_11348dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.340_351dup MANE Select	ENSP00000344566.4:p.Arg117_Leu118insThrLeuProArg
ENST00000325223.7:c.340_351dup	ENSP00000317302.7:p.Arg117_Leu118insThrLeuProArg
ENST00000339818.8:c.340_351dup	ENSP00000344566.4:p.Arg117_Leu118insThrLeuProArg
ENST00000397956.7:c.340_351dup	ENSP00000381047.3:p.Arg117_Leu118insThrLeuProArg
ENST00000462742.1:n.2511_2522dup
ENST00000478674.1:n.399_410dup
ENST00000496321.5:n.456_467dup
NM_001271440.1:c.340_351dup	NP_001258369.1:p.Arg117_Leu118insThrLeuProArg
NM_001271441.1:c.340_351dup	NP_001258370.1:p.Arg117_Leu118insThrLeuProArg
NM_001271442.1:c.217_228dup	NP_001258371.1:p.Arg76_Leu77insThrLeuProArg
NM_004928.2:c.340_351dup	NP_004919.1:p.Arg117_Leu118insThrLeuProArg
XM_006724051.2:c.415_426dup	XP_006724114.1:p.Arg142_Leu143insThrLeuProArg
XM_006724052.2:c.415_426dup	XP_006724115.1:p.Arg142_Leu143insThrLeuProArg
XM_006724053.2:c.16_27dup	XP_006724116.1:p.Arg9_Leu10insThrLeuProArg
XR_937571.1:n.543_554dup
XM_006724051.3:c.415_426dup	XP_006724114.1:p.Arg142_Leu143insThrLeuProArg
XM_006724053.3:c.16_27dup	XP_006724116.1:p.Arg9_Leu10insThrLeuProArg
XM_017028470.1:c.544_555dup	XP_016883959.1:p.Arg185_Leu186insThrLeuProArg
XM_017028471.1:c.289_300dup	XP_016883960.1:p.Arg100_Leu101insThrLeuProArg
XM_017028472.1:c.16_27dup	XP_016883961.1:p.Arg9_Leu10insThrLeuProArg
XR_937571.2:n.550_561dup
NM_004928.3:c.340_351dup MANE Select	NP_004919.1:p.Arg117_Leu118insThrLeuProArg
NM_001271440.2:c.340_351dup	NP_001258369.1:p.Arg117_Leu118insThrLeuProArg
NM_001271441.2:c.340_351dup	NP_001258370.1:p.Arg117_Leu118insThrLeuProArg