Canonical Allele Identifier: CA10053919

Gene: CFAP410

Linked Data

• ClinVar Variation Id: 438159
• ClinVar RCV Id: RCV000505076 ; RCV000504882 ; RCV001008178
• dbSNP Id: rs748531024
• ExAC: 21:45759044 C / CTGCACGCTGTGCAGCT
• gnomAD v2: 21-45759044-C-CTGCACGCTGTGCAGCT
• gnomAD v3: 21-44339161-C-CTGCACGCTGTGCAGCT
• gnomAD v4: 21-44339161-C-CTGCACGCTGTGCAGCT
• MyVariant Identifiers: chr21:g.45759044_45759045insTGCACGCTGTGCAGCT (hg19) ; chr21:g.44339161_44339162insTGCACGCTGTGCAGCT (hg38)
• PubMed: PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44339161_44339162insTGCACGCTGTGCAGCT , CM000683.2:g.44339161_44339162insTGCACGCTGTGCAGCT	GRCh38
NC_000021.8:g.45759044_45759045insTGCACGCTGTGCAGCT , CM000683.1:g.45759044_45759045insTGCACGCTGTGCAGCT	GRCh37
NC_000021.7:g.44583472_44583473insTGCACGCTGTGCAGCT	NCBI36
NG_032952.1:g.5241_5242insAGCTGCACAGCGTGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.33_34insAGCTGCACAGCGTGCA MANE Select	ENSP00000344566.4:p.Ala12SerfsTer?
ENST00000325223.7:c.33_34insAGCTGCACAGCGTGCA	ENSP00000317302.7:p.Ala12SerfsTer?
ENST00000339818.8:c.33_34insAGCTGCACAGCGTGCA	ENSP00000344566.4:p.Ala12SerfsTer?
ENST00000397956.7:c.33_34insAGCTGCACAGCGTGCA	ENSP00000381047.3:p.Ala12SerfsTer?
NM_001271440.1:c.33_34insAGCTGCACAGCGTGCA	NP_001258369.1:p.Ala12SerfsTer?
NM_001271441.1:c.33_34insAGCTGCACAGCGTGCA	NP_001258370.1:p.Ala12SerfsTer?
NM_004928.2:c.33_34insAGCTGCACAGCGTGCA	NP_004919.1:p.Ala12SerfsTer?
XM_006724053.2:c.-245_-244insAGCTGCACAGCGTGCA	XP_006724116.1:n.-245_-244insAGCTGCACAGCGTGCA
XR_937571.1:n.236_237insAGCTGCACAGCGTGCA
XM_006724053.3:c.-245_-244insAGCTGCACAGCGTGCA	XP_006724116.1:n.-245_-244insAGCTGCACAGCGTGCA
XM_017028470.1:c.241_242insAGCTGCACAGCGTGCA	XP_016883959.1:p.Gly81GlufsTer?
XM_017028471.1:c.33_34insAGCTGCACAGCGTGCA	XP_016883960.1:p.Ala12SerfsTer?
XM_017028472.1:c.-245_-244insAGCTGCACAGCGTGCA	XP_016883961.1:n.-245_-244insAGCTGCACAGCGTGCA
XR_937571.2:n.243_244insAGCTGCACAGCGTGCA
NM_004928.3:c.33_34insAGCTGCACAGCGTGCA MANE Select	NP_004919.1:p.Ala12SerfsTer?
NM_001271440.2:c.33_34insAGCTGCACAGCGTGCA	NP_001258369.1:p.Ala12SerfsTer?
NM_001271441.2:c.33_34insAGCTGCACAGCGTGCA	NP_001258370.1:p.Ala12SerfsTer?