Canonical Allele Identifier: CA10053731

Gene: CFAP410

Linked Data

• dbSNP Id: rs774927073
• ExAC: 21:45752987 C / CA
• gnomAD v2: 21-45752987-C-CA
• gnomAD v3: 21-44333104-C-CA
• gnomAD v4: 21-44333104-C-CA
• MyVariant Identifiers: chr21:g.45752987_45752988insA (hg19) ; chr21:g.44333104_44333105insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333104_44333105insA , CM000683.2:g.44333104_44333105insA	GRCh38
NC_000021.8:g.45752987_45752988insA , CM000683.1:g.45752987_45752988insA	GRCh37
NC_000021.7:g.44577415_44577416insA	NCBI36
NG_032952.1:g.11298_11299insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.301_302insT MANE Select	ENSP00000344566.4:p.Gly101ValfsTer?
ENST00000325223.7:c.301_302insT	ENSP00000317302.7:p.Gly101ValfsTer?
ENST00000339818.8:c.301_302insT	ENSP00000344566.4:p.Gly101ValfsTer?
ENST00000397956.7:c.301_302insT	ENSP00000381047.3:p.Gly101ValfsTer?
ENST00000462742.1:n.2472_2473insT
ENST00000478674.1:n.360_361insT
ENST00000496321.5:n.417_418insT
NM_001271440.1:c.301_302insT	NP_001258369.1:p.Gly101ValfsTer?
NM_001271441.1:c.301_302insT	NP_001258370.1:p.Gly101ValfsTer?
NM_001271442.1:c.178_179insT	NP_001258371.1:p.Gly60ValfsTer?
NM_004928.2:c.301_302insT	NP_004919.1:p.Gly101ValfsTer?
XM_006724051.2:c.376_377insT	XP_006724114.1:p.Gly126ValfsTer?
XM_006724052.2:c.376_377insT	XP_006724115.1:p.Gly126ValfsTer?
XM_006724053.2:c.-24_-23insT	XP_006724116.1:n.-24_-23insT
XR_937571.1:n.504_505insT
XM_006724051.3:c.376_377insT	XP_006724114.1:p.Gly126ValfsTer?
XM_006724053.3:c.-24_-23insT	XP_006724116.1:n.-24_-23insT
XM_017028470.1:c.505_506insT	XP_016883959.1:p.Gly169ValfsTer?
XM_017028471.1:c.250_251insT	XP_016883960.1:p.Gly84ValfsTer?
XM_017028472.1:c.-24_-23insT	XP_016883961.1:n.-24_-23insT
XR_937571.2:n.511_512insT
NM_004928.3:c.301_302insT MANE Select	NP_004919.1:p.Gly101ValfsTer?
NM_001271440.2:c.301_302insT	NP_001258369.1:p.Gly101ValfsTer?
NM_001271441.2:c.301_302insT	NP_001258370.1:p.Gly101ValfsTer?