Canonical Allele Identifier: CA5680316

Gene: CFAP43

Linked Data

• dbSNP Id: rs780377912
• ExAC: 10:105921758 TC / T
• gnomAD v2: 10-105921758-TC-T
• gnomAD v4: 10-104162000-TC-T
• MyVariant Identifiers: chr10:g.105921759del (hg19) ; chr10:g.104162001del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104162003del , CM000672.2:g.104162003del	GRCh38
NC_000010.10:g.105921761del , CM000672.1:g.105921761del	GRCh37
NC_000010.9:g.105911751del	NCBI36
NG_051581.1:g.75377del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357060.8:c.3374del MANE Select	ENSP00000349568.3:p.Gly1125GlufsTer12
ENST00000357060.7:c.3374del	ENSP00000349568.3:p.Gly1125GlufsTer12
ENST00000434629.5:c.1456del
NM_025145.5:c.3374del	NP_079421.5:p.Gly1125GlufsTer12
XM_005270171.1:c.3377del	XP_005270228.1:p.Gly1126GlufsTer12
XM_005270172.2:c.3377del	XP_005270229.1:p.Gly1126GlufsTer12
XM_011540196.1:c.3491del	XP_011538498.1:p.Gly1164GlufsTer12
XM_011540197.1:c.3491del	XP_011538499.1:p.Gly1164GlufsTer12
XM_011540198.1:c.3374del	XP_011538500.1:p.Gly1125GlufsTer12
XM_011540199.1:c.3374del	XP_011538501.1:p.Gly1125GlufsTer12
XM_011540200.1:c.3491del	XP_011538502.1:p.Gly1164GlufsTer12
XM_011540201.1:c.3491del	XP_011538503.1:p.Gly1164GlufsTer12
XM_011540202.1:c.2720del	XP_011538504.1:p.Gly907GlufsTer12
XM_011540203.1:c.1274del	XP_011538505.1:p.Gly425GlufsTer12
NM_025145.6:c.3374del	NP_079421.5:p.Gly1125GlufsTer12
XM_005270171.2:c.3377del	XP_005270228.1:p.Gly1126GlufsTer12
XM_005270172.3:c.3377del	XP_005270229.1:p.Gly1126GlufsTer12
XM_011540196.2:c.3491del	XP_011538498.1:p.Gly1164GlufsTer12
XM_011540197.2:c.3491del	XP_011538499.1:p.Gly1164GlufsTer12
XM_011540198.2:c.3374del	XP_011538500.1:p.Gly1125GlufsTer12
XM_011540199.2:c.3374del	XP_011538501.1:p.Gly1125GlufsTer12
XM_011540200.2:c.3491del	XP_011538502.1:p.Gly1164GlufsTer12
XM_011540201.2:c.3491del	XP_011538503.1:p.Gly1164GlufsTer12
XM_011540202.2:c.2720del	XP_011538504.1:p.Gly907GlufsTer12
XM_017016681.1:c.3488del	XP_016872170.1:p.Gly1163GlufsTer12
XM_017016682.1:c.3143del	XP_016872171.1:p.Gly1048GlufsTer12
XM_024448177.1:c.1877del	XP_024303945.1:p.Gly626GlufsTer12
XM_024448178.1:c.1274del	XP_024303946.1:p.Gly425GlufsTer12
XR_002957015.1:n.3260del
NM_025145.7:c.3374del MANE Select	NP_079421.5:p.Gly1125GlufsTer12