Canonical Allele Identifier: CA2391590961
Gene: CFAP410 HGNC NCBI

Linked Data

dbSNP Id: rs2047683374

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44333126_44333127insA , CM000683.2:g.44333126_44333127insA GRCh38
NC_000021.8:g.45753009_45753010insA , CM000683.1:g.45753009_45753010insA GRCh37
NC_000021.7:g.44577437_44577438insA NCBI36
NG_032952.1:g.11276_11277insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000339818.9:c.279_280insT MANE Select ENSP00000344566.4:p.Leu94SerfsTer?
ENST00000325223.7:c.279_280insT ENSP00000317302.7:p.Leu94SerfsTer?
ENST00000339818.8:c.279_280insT ENSP00000344566.4:p.Leu94SerfsTer?
ENST00000397956.7:c.279_280insT ENSP00000381047.3:p.Leu94SerfsTer?
ENST00000462742.1:n.2450_2451insT
ENST00000478674.1:n.338_339insT
ENST00000496321.5:n.395_396insT
NM_001271440.1:c.279_280insT NP_001258369.1:p.Leu94SerfsTer?
NM_001271441.1:c.279_280insT NP_001258370.1:p.Leu94SerfsTer?
NM_001271442.1:c.156_157insT NP_001258371.1:p.Leu53SerfsTer?
NM_004928.2:c.279_280insT NP_004919.1:p.Leu94SerfsTer?
XM_006724051.2:c.354_355insT XP_006724114.1:p.Leu119SerfsTer?
XM_006724052.2:c.354_355insT XP_006724115.1:p.Leu119SerfsTer?
XM_006724053.2:c.-46_-45insT XP_006724116.1:n.-46_-45insT
XR_937571.1:n.482_483insT
XM_006724051.3:c.354_355insT XP_006724114.1:p.Leu119SerfsTer?
XM_006724053.3:c.-46_-45insT XP_006724116.1:n.-46_-45insT
XM_017028470.1:c.483_484insT XP_016883959.1:p.Leu162SerfsTer?
XM_017028471.1:c.228_229insT XP_016883960.1:p.Leu77SerfsTer?
XM_017028472.1:c.-46_-45insT XP_016883961.1:n.-46_-45insT
XR_937571.2:n.489_490insT
NM_004928.3:c.279_280insT MANE Select NP_004919.1:p.Leu94SerfsTer?
NM_001271440.2:c.279_280insT NP_001258369.1:p.Leu94SerfsTer?
NM_001271441.2:c.279_280insT NP_001258370.1:p.Leu94SerfsTer?