Canonical Allele Identifier: CA5680985

Gene: CFAP43

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104196908_104196909del , CM000672.2:g.104196908_104196909del	GRCh38
NC_000010.10:g.105956666_105956667del , CM000672.1:g.105956666_105956667del	GRCh37
NC_000010.9:g.105946656_105946657del	NCBI36
NG_051581.1:g.40472_40473del

Transcript Alleles

HGVS	Amino-acid Change
NM_025145.7:c.1240_1241del MANE Select	NP_079421.5:p.Val414LeufsTer?
ENST00000357060.8:c.1240_1241del MANE Select	ENSP00000349568.3:p.Val414LeufsTer?
NM_025145.5:c.1240_1241del	NP_079421.5:p.Val414LeufsTer?
NM_025145.6:c.1240_1241del	NP_079421.5:p.Val414LeufsTer?
ENST00000278064.6:c.1033_1034del	ENSP00000278064.2:p.Val345LeufsTer?
ENST00000278064.7:c.1243_1244del	ENSP00000278064.3:p.Val415LeufsTer?
ENST00000357060.7:c.1240_1241del	ENSP00000349568.3:p.Val414LeufsTer?
ENST00000369720.5:c.1033_1034del	ENSP00000358734.1:p.Val345LeufsTer?
ENST00000369720.6:c.1243_1244del	ENSP00000358734.2:p.Val415LeufsTer?
XM_005270171.1:c.1243_1244del	XP_005270228.1:p.Val415LeufsTer?
XM_005270171.2:c.1243_1244del	XP_005270228.1:p.Val415LeufsTer?
XM_005270172.2:c.1243_1244del	XP_005270229.1:p.Val415LeufsTer?
XM_005270172.3:c.1243_1244del	XP_005270229.1:p.Val415LeufsTer?
XM_011540196.1:c.1243_1244del	XP_011538498.1:p.Val415LeufsTer?
XM_011540196.2:c.1243_1244del	XP_011538498.1:p.Val415LeufsTer?
XM_011540197.1:c.1243_1244del	XP_011538499.1:p.Val415LeufsTer?
XM_011540197.2:c.1243_1244del	XP_011538499.1:p.Val415LeufsTer?
XM_011540198.1:c.1126_1127del	XP_011538500.1:p.Val376LeufsTer?
XM_011540198.2:c.1126_1127del	XP_011538500.1:p.Val376LeufsTer?
XM_011540199.1:c.1243_1244del	XP_011538501.1:p.Val415LeufsTer?
XM_011540199.2:c.1243_1244del	XP_011538501.1:p.Val415LeufsTer?
XM_011540200.1:c.1243_1244del	XP_011538502.1:p.Val415LeufsTer?
XM_011540200.2:c.1243_1244del	XP_011538502.1:p.Val415LeufsTer?
XM_011540201.1:c.1243_1244del	XP_011538503.1:p.Val415LeufsTer?
XM_011540201.2:c.1243_1244del	XP_011538503.1:p.Val415LeufsTer?
XM_011540202.1:c.472_473del	XP_011538504.1:p.Val158LeufsTer?
XM_011540202.2:c.472_473del	XP_011538504.1:p.Val158LeufsTer?
XM_017016681.1:c.1240_1241del	XP_016872170.1:p.Val414LeufsTer?
XM_017016682.1:c.1126_1127del	XP_016872171.1:p.Val376LeufsTer?
XM_017016684.1:c.1243_1244del	XP_016872173.1:p.Val415LeufsTer?
XR_002957015.1:n.1126_1127del