Canonical Allele Identifier: CA2573147206

Gene: DEAF1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.653967_653968delinsAC , CM000673.2:g.653967_653968delinsAC	GRCh38
NC_000011.9:g.653967_653968delinsAC , CM000673.1:g.653967_653968delinsAC	GRCh37
NC_000011.8:g.643967_643968delinsAC	NCBI36
NG_034156.1:g.46787_46788delinsGT
NG_034156.2:g.58116_58117delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525626.6:n.1472_1473delinsGT
ENST00000528864.6:n.1473_1474delinsGT
ENST00000530813.2:c.*1210_*1211delinsGT	ENSP00000508507.1:n.*1210_*1211delinsGT
ENST00000682936.1:n.1347_1348delinsGT
ENST00000683307.1:c.861_862delinsGT	ENSP00000507198.1:p.Arg288Cys
ENST00000685854.1:c.1383_1384delinsGT	ENSP00000508801.1:p.Arg462Cys
ENST00000686001.1:c.1383_1384delinsGT	ENSP00000508459.1:p.Arg462Cys
ENST00000687329.1:c.*422_*423delinsGT	ENSP00000510598.1:n.*422_*423delinsGT
ENST00000689835.1:c.1383_1384delinsGT	ENSP00000510621.1:p.Arg462Cys
ENST00000690068.1:c.1254_1255delinsGT	ENSP00000509089.1:p.Arg419Cys
ENST00000692634.1:c.*332_*333delinsGT	ENSP00000508859.1:n.*332_*333delinsGT
ENST00000382409.4:c.1587_1588delinsGT MANE Select	ENSP00000371846.3:p.Arg530Cys
ENST00000382409.3:c.1587_1588delinsGT	ENSP00000371846.3:p.Arg530Cys
ENST00000525904.5:n.770_771delinsGT
ENST00000527170.5:c.949_950delinsGT
ENST00000530813.1:n.662_663delinsGT
NM_001293634.1:c.1362_1363delinsGT	NP_001280563.1:p.Arg455Cys
NM_021008.3:c.1587_1588delinsGT	NP_066288.2:p.Arg530Cys
XM_011519842.1:c.1587_1588delinsGT	XP_011518144.1:p.Arg530Cys
XM_011519843.1:c.1587_1588delinsGT	XP_011518145.1:p.Arg530Cys
XR_428838.2:n.1593_1594delinsGT
XR_930843.1:n.1955_1956delinsGT
XM_011519842.3:c.1587_1588delinsGT	XP_011518144.1:p.Arg530Cys
XM_024448325.1:c.1587_1588delinsGT	XP_024304093.1:p.Arg530Cys
XM_024448326.1:c.1587_1588delinsGT	XP_024304094.1:p.Arg530Cys
XM_024448327.1:c.*422_*423delinsGT	XP_024304095.1:n.*422_*423delinsGT
NM_001367390.1:c.861_862delinsGT	NP_001354319.1:p.Arg288Cys
NM_021008.4:c.1587_1588delinsGT MANE Select	NP_066288.2:p.Arg530Cys