Canonical Allele Identifier: CA2573157695

Gene: CFAP410

Linked Data

• ClinVar Variation Id: 1347792
• ClinVar RCV Id: RCV002033195
• dbSNP Id: rs2146067984
• gnomAD v4: 21-44333050-TGTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333052_44333054del , CM000683.2:g.44333052_44333054del	GRCh38
NC_000021.8:g.45752935_45752937del , CM000683.1:g.45752935_45752937del	GRCh37
NC_000021.7:g.44577363_44577365del	NCBI36
NG_032952.1:g.11350_11352del

Transcript Alleles

HGVS	Amino-acid change
ENST00000339818.9:c.353_355del MANE Select	ENSP00000344566.4:p.Leu118del
ENST00000325223.7:c.353_355del	ENSP00000317302.7:p.Leu118del
ENST00000339818.8:c.353_355del	ENSP00000344566.4:p.Leu118del
ENST00000397956.7:c.353_355del	ENSP00000381047.3:p.Leu118del
ENST00000462742.1:n.2524_2526del
ENST00000478674.1:n.412_414del
ENST00000496321.5:n.469_471del
NM_001271440.1:c.353_355del	NP_001258369.1:p.Leu118del
NM_001271441.1:c.353_355del	NP_001258370.1:p.Leu118del
NM_001271442.1:c.230_232del	NP_001258371.1:p.Leu77del
NM_004928.2:c.353_355del	NP_004919.1:p.Leu118del
XM_006724051.2:c.428_430del	XP_006724114.1:p.Leu143del
XM_006724052.2:c.428_430del	XP_006724115.1:p.Leu143del
XM_006724053.2:c.29_31del	XP_006724116.1:p.Leu10del
XR_937571.1:n.556_558del
XM_006724051.3:c.428_430del	XP_006724114.1:p.Leu143del
XM_006724053.3:c.29_31del	XP_006724116.1:p.Leu10del
XM_017028470.1:c.557_559del	XP_016883959.1:p.Leu186del
XM_017028471.1:c.302_304del	XP_016883960.1:p.Leu101del
XM_017028472.1:c.29_31del	XP_016883961.1:p.Leu10del
XR_937571.2:n.563_565del
NM_004928.3:c.353_355del MANE Select	NP_004919.1:p.Leu118del
NM_001271440.2:c.353_355del	NP_001258369.1:p.Leu118del
NM_001271441.2:c.353_355del	NP_001258370.1:p.Leu118del