Canonical Allele Identifier: CA10053768

Gene: CFAP410

Linked Data

• dbSNP Id: rs760843025
• ExAC: 21:45753104 T / TA
• gnomAD v2: 21-45753104-T-TA
• gnomAD v3: 21-44333221-T-TA
• gnomAD v4: 21-44333221-T-TA
• MyVariant Identifiers: chr21:g.45753104_45753105insA (hg19) ; chr21:g.44333221_44333222insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333221_44333222insA , CM000683.2:g.44333221_44333222insA	GRCh38
NC_000021.8:g.45753104_45753105insA , CM000683.1:g.45753104_45753105insA	GRCh37
NC_000021.7:g.44577532_44577533insA	NCBI36
NG_032952.1:g.11181_11182insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.184_185insT MANE Select	ENSP00000344566.4:p.Gln62LeufsTer5
ENST00000325223.7:c.184_185insT	ENSP00000317302.7:p.Gln62LeufsTer5
ENST00000339818.8:c.184_185insT	ENSP00000344566.4:p.Gln62LeufsTer5
ENST00000397956.7:c.184_185insT	ENSP00000381047.3:p.Gln62LeufsTer5
ENST00000462742.1:n.2355_2356insT
ENST00000478674.1:n.243_244insT
ENST00000496321.5:n.300_301insT
NM_001271440.1:c.184_185insT	NP_001258369.1:p.Gln62LeufsTer5
NM_001271441.1:c.184_185insT	NP_001258370.1:p.Gln62LeufsTer5
NM_001271442.1:c.61_62insT	NP_001258371.1:p.Gln21LeufsTer5
NM_004928.2:c.184_185insT	NP_004919.1:p.Gln62LeufsTer5
XM_006724051.2:c.259_260insT	XP_006724114.1:p.Gln87LeufsTer5
XM_006724052.2:c.259_260insT	XP_006724115.1:p.Gln87LeufsTer5
XM_006724053.2:c.-141_-140insT	XP_006724116.1:n.-141_-140insT
XR_937571.1:n.387_388insT
XM_006724051.3:c.259_260insT	XP_006724114.1:p.Gln87LeufsTer5
XM_006724053.3:c.-141_-140insT	XP_006724116.1:n.-141_-140insT
XM_017028470.1:c.388_389insT	XP_016883959.1:p.Gln130LeufsTer5
XM_017028471.1:c.133_134insT	XP_016883960.1:p.Gln45LeufsTer5
XM_017028472.1:c.-141_-140insT	XP_016883961.1:n.-141_-140insT
XR_937571.2:n.394_395insT
NM_004928.3:c.184_185insT MANE Select	NP_004919.1:p.Gln62LeufsTer5
NM_001271440.2:c.184_185insT	NP_001258369.1:p.Gln62LeufsTer5
NM_001271441.2:c.184_185insT	NP_001258370.1:p.Gln62LeufsTer5