Canonical Allele Identifier: CA5680869

Gene: CFAP43

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104188381_104188382del , CM000672.2:g.104188381_104188382del	GRCh38
NC_000010.10:g.105948139_105948140del , CM000672.1:g.105948139_105948140del	GRCh37
NC_000010.9:g.105938129_105938130del	NCBI36
NG_051581.1:g.48998_48999del

Transcript Alleles

HGVS	Amino-acid Change
NM_025145.7:c.1577_1578del MANE Select	NP_079421.5:p.Thr526SerfsTer?
ENST00000357060.8:c.1577_1578del MANE Select	ENSP00000349568.3:p.Thr526SerfsTer?
NM_025145.5:c.1577_1578del	NP_079421.5:p.Thr526SerfsTer?
NM_025145.6:c.1577_1578del	NP_079421.5:p.Thr526SerfsTer?
ENST00000278064.6:c.1370_1371del	ENSP00000278064.2:p.Thr457SerfsTer?
ENST00000278064.7:c.1580_1581del	ENSP00000278064.3:p.Thr527SerfsTer?
ENST00000357060.7:c.1577_1578del	ENSP00000349568.3:p.Thr526SerfsTer?
XM_005270171.1:c.1580_1581del	XP_005270228.1:p.Thr527SerfsTer?
XM_005270171.2:c.1580_1581del	XP_005270228.1:p.Thr527SerfsTer?
XM_005270172.2:c.1580_1581del	XP_005270229.1:p.Thr527SerfsTer?
XM_005270172.3:c.1580_1581del	XP_005270229.1:p.Thr527SerfsTer?
XM_011540196.1:c.1580_1581del	XP_011538498.1:p.Thr527SerfsTer?
XM_011540196.2:c.1580_1581del	XP_011538498.1:p.Thr527SerfsTer?
XM_011540197.1:c.1580_1581del	XP_011538499.1:p.Thr527SerfsTer?
XM_011540197.2:c.1580_1581del	XP_011538499.1:p.Thr527SerfsTer?
XM_011540198.1:c.1463_1464del	XP_011538500.1:p.Thr488SerfsTer?
XM_011540198.2:c.1463_1464del	XP_011538500.1:p.Thr488SerfsTer?
XM_011540199.1:c.1580_1581del	XP_011538501.1:p.Thr527SerfsTer?
XM_011540199.2:c.1580_1581del	XP_011538501.1:p.Thr527SerfsTer?
XM_011540200.1:c.1580_1581del	XP_011538502.1:p.Thr527SerfsTer?
XM_011540200.2:c.1580_1581del	XP_011538502.1:p.Thr527SerfsTer?
XM_011540201.1:c.1580_1581del	XP_011538503.1:p.Thr527SerfsTer?
XM_011540201.2:c.1580_1581del	XP_011538503.1:p.Thr527SerfsTer?
XM_011540202.1:c.809_810del	XP_011538504.1:p.Thr270SerfsTer?
XM_011540202.2:c.809_810del	XP_011538504.1:p.Thr270SerfsTer?
XM_017016681.1:c.1577_1578del	XP_016872170.1:p.Thr526SerfsTer?
XM_017016682.1:c.1463_1464del	XP_016872171.1:p.Thr488SerfsTer?
XM_017016684.1:c.1580_1581del	XP_016872173.1:p.Thr527SerfsTer?
XM_024448177.1:c.-35_-34del	XP_024303945.1:n.-35_-34del
XM_024448178.1:c.-654_-653del	XP_024303946.1:n.-654_-653del
XR_002957015.1:n.1463_1464del