Canonical Allele Identifier: CA10053763

Gene: CFAP410

Linked Data

• dbSNP Id: rs773361360
• ExAC: 21:45753090 G / GC
• MyVariant Identifiers: chr21:g.45753090_45753091insC (hg19) ; chr21:g.44333207_44333208insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333208dup , CM000683.2:g.44333208dup	GRCh38
NC_000021.8:g.45753091dup , CM000683.1:g.45753091dup	GRCh37
NC_000021.7:g.44577519dup	NCBI36
NG_032952.1:g.11195dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.198dup MANE Select	ENSP00000344566.4:p.Leu67AlafsTer13
ENST00000325223.7:c.198dup	ENSP00000317302.7:p.Leu67AlafsTer13
ENST00000339818.8:c.198dup	ENSP00000344566.4:p.Leu67AlafsTer13
ENST00000397956.7:c.198dup	ENSP00000381047.3:p.Leu67AlafsTer13
ENST00000462742.1:n.2369dup
ENST00000478674.1:n.257dup
ENST00000496321.5:n.314dup
NM_001271440.1:c.198dup	NP_001258369.1:p.Leu67AlafsTer13
NM_001271441.1:c.198dup	NP_001258370.1:p.Leu67AlafsTer13
NM_001271442.1:c.75dup	NP_001258371.1:p.Leu26AlafsTer13
NM_004928.2:c.198dup	NP_004919.1:p.Leu67AlafsTer13
XM_006724051.2:c.273dup	XP_006724114.1:p.Leu92AlafsTer13
XM_006724052.2:c.273dup	XP_006724115.1:p.Leu92AlafsTer13
XM_006724053.2:c.-127dup	XP_006724116.1:n.-127dup
XR_937571.1:n.401dup
XM_006724051.3:c.273dup	XP_006724114.1:p.Leu92AlafsTer13
XM_006724053.3:c.-127dup	XP_006724116.1:n.-127dup
XM_017028470.1:c.402dup	XP_016883959.1:p.Leu135AlafsTer13
XM_017028471.1:c.147dup	XP_016883960.1:p.Leu50AlafsTer13
XM_017028472.1:c.-127dup	XP_016883961.1:n.-127dup
XR_937571.2:n.408dup
NM_004928.3:c.198dup MANE Select	NP_004919.1:p.Leu67AlafsTer13
NM_001271440.2:c.198dup	NP_001258369.1:p.Leu67AlafsTer13
NM_001271441.2:c.198dup	NP_001258370.1:p.Leu67AlafsTer13