Canonical Allele Identifier: CA1022723255

Gene: CFAP410

Linked Data

• dbSNP Id: rs2047686748
• gnomAD v3: 21-44333237-G-GCTC
• gnomAD v4: 21-44333237-G-GCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333239_44333241dup , CM000683.2:g.44333239_44333241dup	GRCh38
NC_000021.8:g.45753122_45753124dup , CM000683.1:g.45753122_45753124dup	GRCh37
NC_000021.7:g.44577550_44577552dup	NCBI36
NG_032952.1:g.11163_11165dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.166_168dup MANE Select	ENSP00000344566.4:p.Glu56_Pro57insGlu
ENST00000325223.7:c.166_168dup	ENSP00000317302.7:p.Glu56_Pro57insGlu
ENST00000339818.8:c.166_168dup	ENSP00000344566.4:p.Glu56_Pro57insGlu
ENST00000397956.7:c.166_168dup	ENSP00000381047.3:p.Glu56_Pro57insGlu
ENST00000462742.1:n.2337_2339dup
ENST00000478674.1:n.225_227dup
ENST00000496321.5:n.282_284dup
NM_001271440.1:c.166_168dup	NP_001258369.1:p.Glu56_Pro57insGlu
NM_001271441.1:c.166_168dup	NP_001258370.1:p.Glu56_Pro57insGlu
NM_001271442.1:c.43_45dup	NP_001258371.1:p.Glu15_Pro16insGlu
NM_004928.2:c.166_168dup	NP_004919.1:p.Glu56_Pro57insGlu
XM_006724051.2:c.241_243dup	XP_006724114.1:p.Glu81_Pro82insGlu
XM_006724052.2:c.241_243dup	XP_006724115.1:p.Glu81_Pro82insGlu
XM_006724053.2:c.-159_-157dup	XP_006724116.1:n.-159_-157dup
XR_937571.1:n.369_371dup
XM_006724051.3:c.241_243dup	XP_006724114.1:p.Glu81_Pro82insGlu
XM_006724053.3:c.-159_-157dup	XP_006724116.1:n.-159_-157dup
XM_017028470.1:c.370_372dup	XP_016883959.1:p.Glu124_Pro125insGlu
XM_017028471.1:c.115_117dup	XP_016883960.1:p.Glu39_Pro40insGlu
XM_017028472.1:c.-159_-157dup	XP_016883961.1:n.-159_-157dup
XR_937571.2:n.376_378dup
NM_004928.3:c.166_168dup MANE Select	NP_004919.1:p.Glu56_Pro57insGlu
NM_001271440.2:c.166_168dup	NP_001258369.1:p.Glu56_Pro57insGlu
NM_001271441.2:c.166_168dup	NP_001258370.1:p.Glu56_Pro57insGlu