Canonical Allele Identifier: CA638494342

Gene: CFAP410

Linked Data

• dbSNP Id: rs1332509685
• gnomAD v2: 21-45752566-TACTG-T
• gnomAD v3: 21-44332683-TACTG-T
• gnomAD v4: 21-44332683-TACTG-T
• MyVariant Identifiers: chr21:g.45752567_45752570del (hg19) ; chr21:g.44332684_44332687del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44332686_44332689del , CM000683.2:g.44332686_44332689del	GRCh38
NC_000021.8:g.45752569_45752572del , CM000683.1:g.45752569_45752572del	GRCh37
NC_000021.7:g.44576997_44577000del	NCBI36
NG_032952.1:g.11716_11719del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.373+346_373+349del MANE Select	ENSP00000344566.4:n.373+346_373+349del
ENST00000325223.7:c.373+346_373+349del	ENSP00000317302.7:n.373+346_373+349del
ENST00000339818.8:c.373+346_373+349del	ENSP00000344566.4:n.373+346_373+349del
ENST00000397956.7:c.373+346_373+349del	ENSP00000381047.3:n.373+346_373+349del
ENST00000462742.1:n.2544+346_2544+349del
ENST00000478674.1:n.432+346_432+349del
ENST00000496321.5:n.489+346_489+349del
NM_001271440.1:c.373+346_373+349del	NP_001258369.1:n.373+346_373+349del
NM_001271441.1:c.373+346_373+349del	NP_001258370.1:n.373+346_373+349del
NM_001271442.1:c.250+346_250+349del	NP_001258371.1:n.250+346_250+349del
NM_004928.2:c.373+346_373+349del	NP_004919.1:n.373+346_373+349del
XM_006724051.2:c.448+346_448+349del	XP_006724114.1:n.448+346_448+349del
XM_006724052.2:c.448+346_448+349del	XP_006724115.1:n.448+346_448+349del
XM_006724053.2:c.49+346_49+349del	XP_006724116.1:n.49+346_49+349del
XR_937571.1:n.576+346_576+349del
XM_006724051.3:c.448+346_448+349del	XP_006724114.1:n.448+346_448+349del
XM_006724053.3:c.49+346_49+349del	XP_006724116.1:n.49+346_49+349del
XM_017028470.1:c.577+346_577+349del	XP_016883959.1:n.577+346_577+349del
XM_017028471.1:c.322+346_322+349del	XP_016883960.1:n.322+346_322+349del
XM_017028472.1:c.49+346_49+349del	XP_016883961.1:n.49+346_49+349del
XR_937571.2:n.583+346_583+349del
NM_004928.3:c.373+346_373+349del MANE Select	NP_004919.1:n.373+346_373+349del
NM_001271440.2:c.373+346_373+349del	NP_001258369.1:n.373+346_373+349del
NM_001271441.2:c.373+346_373+349del	NP_001258370.1:n.373+346_373+349del