Canonical Allele Identifier: CA10053490

Gene: CFAP410

Linked Data

• ClinVar Variation Id: 1539833
• ClinVar RCV Id: RCV002176985
• dbSNP Id: rs767848858
• ExAC: 21:45750178 C / CGCA
• gnomAD v2: 21-45750178-C-CGCA
• gnomAD v3: 21-44330295-C-CGCA
• gnomAD v4: 21-44330295-C-CGCA
• MyVariant Identifiers: chr21:g.45750181_45750182insGCA (hg19) ; chr21:g.45750178_45750179insGCA (hg19) ; chr21:g.44330295_44330296insGCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44330306_44330308dup , CM000683.2:g.44330306_44330308dup	GRCh38
NC_000021.8:g.45750189_45750191dup , CM000683.1:g.45750189_45750191dup	GRCh37
NC_000021.7:g.44574617_44574619dup	NCBI36
NG_032952.1:g.14105_14107dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.671_673dup MANE Select	ENSP00000344566.4:p.Leu224_Arg225insLeu
ENST00000325223.7:c.668_670dup	ENSP00000317302.7:p.Leu223_Arg224insLeu
ENST00000339818.8:c.671_673dup	ENSP00000344566.4:p.Leu224_Arg225insLeu
ENST00000397956.7:c.1028_1030dup	ENSP00000381047.3:p.Leu343_Arg344insLeu
ENST00000462742.1:n.4125_4127dup
ENST00000470196.5:n.247_249dup
ENST00000496321.5:n.784_786dup
NM_001271440.1:c.668_670dup	NP_001258369.1:p.Leu223_Arg224insLeu
NM_001271441.1:c.1028_1030dup	NP_001258370.1:p.Leu343_Arg344insLeu
NM_001271442.1:c.545_547dup	NP_001258371.1:p.Leu182_Arg183insLeu
NM_004928.2:c.671_673dup	NP_004919.1:p.Leu224_Arg225insLeu
XM_006724051.2:c.746_748dup	XP_006724114.1:p.Leu249_Arg250insLeu
XM_006724052.2:c.743_745dup	XP_006724115.1:p.Leu248_Arg249insLeu
XM_006724053.2:c.347_349dup	XP_006724116.1:p.Leu116_Arg117insLeu
XR_937571.1:n.1231_1233dup
XM_006724051.3:c.746_748dup	XP_006724114.1:p.Leu249_Arg250insLeu
XM_006724053.3:c.347_349dup	XP_006724116.1:p.Leu116_Arg117insLeu
XM_017028470.1:c.872_874dup	XP_016883959.1:p.Leu291_Arg292insLeu
XM_017028471.1:c.620_622dup	XP_016883960.1:p.Leu207_Arg208insLeu
XM_017028472.1:c.344_346dup	XP_016883961.1:p.Leu115_Arg116insLeu
XR_937571.2:n.1238_1240dup
NM_004928.3:c.671_673dup MANE Select	NP_004919.1:p.Leu224_Arg225insLeu
NM_001271440.2:c.668_670dup	NP_001258369.1:p.Leu223_Arg224insLeu
NM_001271441.2:c.1028_1030dup	NP_001258370.1:p.Leu343_Arg344insLeu