Canonical Allele Identifier: CA378939978

Gene: DEAF1 EPS8L2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.694929G>C , CM000673.2:g.694929G>C	GRCh38
NC_000011.9:g.694929G>C , CM000673.1:g.694929G>C	GRCh37
NC_000011.8:g.684929G>C	NCBI36
NG_034156.1:g.5826C>G
NG_034156.2:g.17155C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_021008.4:c.119C>G (DEAF1) MANE Select	NP_066288.2:p.Pro40Arg
ENST00000382409.4:c.119C>G (DEAF1) MANE Select	ENSP00000371846.3:p.Pro40Arg
NM_001293634.1:c.119C>G (DEAF1)	NP_001280563.1:p.Pro40Arg
NM_001367390.1:c.-437-3331C>G (DEAF1)	NP_001354319.1:n.-437-3331C>G
NM_021008.3:c.119C>G (DEAF1)	NP_066288.2:p.Pro40Arg
ENST00000382409.3:c.119C>G (DEAF1)	ENSP00000371846.3:p.Pro40Arg
ENST00000524763.5:c.-227+454G>C (EPS8L2)	ENSP00000435128.1:n.-227+454G>C
ENST00000525626.5:n.145-3331C>G (DEAF1)
ENST00000529717.5:c.3C>G (DEAF1)
ENST00000529717.6:c.-86C>G (DEAF1)	ENSP00000432518.2:n.-86C>G
ENST00000683307.1:c.-437-3331C>G (DEAF1)	ENSP00000507198.1:n.-437-3331C>G
ENST00000685854.1:c.-86C>G (DEAF1)	ENSP00000508801.1:n.-86C>G
ENST00000686001.1:c.-86C>G (DEAF1)	ENSP00000508459.1:n.-86C>G
ENST00000687329.1:c.-86C>G (DEAF1)	ENSP00000510598.1:n.-86C>G
ENST00000689835.1:c.-86C>G (DEAF1)	ENSP00000510621.1:n.-86C>G
ENST00000690068.1:c.-86C>G (DEAF1)	ENSP00000509089.1:n.-86C>G
ENST00000692634.1:c.-86C>G (DEAF1)	ENSP00000508859.1:n.-86C>G
ENST00000693164.1:n.113C>G (DEAF1)
XM_011519842.1:c.119C>G (DEAF1)	XP_011518144.1:p.Pro40Arg
XM_011519842.3:c.119C>G (DEAF1)	XP_011518144.1:p.Pro40Arg
XM_011519843.1:c.119C>G (DEAF1)	XP_011518145.1:p.Pro40Arg
XM_024448325.1:c.119C>G (DEAF1)	XP_024304093.1:p.Pro40Arg
XM_024448326.1:c.119C>G (DEAF1)	XP_024304094.1:p.Pro40Arg
XM_024448327.1:c.119C>G (DEAF1)	XP_024304095.1:p.Pro40Arg
XR_428838.2:n.125C>G (DEAF1)
XR_930843.1:n.125C>G (DEAF1)