Canonical Allele Identifier: CA5786104

Gene: DEAF1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.644627C>T , CM000673.2:g.644627C>T	GRCh38
NC_000011.9:g.644627C>T , CM000673.1:g.644627C>T	GRCh37
NC_000011.8:g.634627C>T	NCBI36
NG_034156.1:g.56128G>A
NG_034156.2:g.67457G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_021008.4:c.1621G>A MANE Select	NP_066288.2:p.Gly541Ser
ENST00000382409.4:c.1621G>A MANE Select	ENSP00000371846.3:p.Gly541Ser
NM_001293634.1:c.1396G>A	NP_001280563.1:p.Gly466Ser
NM_001367390.1:c.895G>A	NP_001354319.1:p.Gly299Ser
NM_021008.3:c.1621G>A	NP_066288.2:p.Gly541Ser
ENST00000382409.3:c.1621G>A	ENSP00000371846.3:p.Gly541Ser
ENST00000525626.6:n.1506G>A
ENST00000527170.5:c.1229G>A
ENST00000527658.1:n.298G>A
ENST00000528864.6:n.1507G>A
ENST00000682936.1:n.1381G>A
ENST00000683307.1:c.895G>A	ENSP00000507198.1:p.Gly299Ser
ENST00000685854.1:c.1723G>A	ENSP00000508801.1:p.Gly575Ser
ENST00000686001.1:c.*66G>A	ENSP00000508459.1:n.*66G>A
ENST00000687329.1:c.*456G>A	ENSP00000510598.1:n.*456G>A
ENST00000690068.1:c.1288G>A	ENSP00000509089.1:p.Gly430Ser
ENST00000692634.1:c.*366G>A	ENSP00000508859.1:n.*366G>A
XM_024448325.1:c.*181G>A	XP_024304093.1:n.*181G>A
XM_024448326.1:c.*230G>A	XP_024304094.1:n.*230G>A
XM_024448327.1:c.*456G>A	XP_024304095.1:n.*456G>A
XR_428838.2:n.1873G>A