Canonical Allele Identifier: CA378940109

Gene: DEAF1 EPS8L2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.694944C>T , CM000673.2:g.694944C>T	GRCh38
NC_000011.9:g.694944C>T , CM000673.1:g.694944C>T	GRCh37
NC_000011.8:g.684944C>T	NCBI36
NG_034156.1:g.5811G>A
NG_034156.2:g.17140G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_021008.4:c.104G>A (DEAF1) MANE Select	NP_066288.2:p.Gly35Asp
ENST00000382409.4:c.104G>A (DEAF1) MANE Select	ENSP00000371846.3:p.Gly35Asp
NM_001293634.1:c.104G>A (DEAF1)	NP_001280563.1:p.Gly35Asp
NM_001367390.1:c.-437-3346G>A (DEAF1)	NP_001354319.1:n.-437-3346G>A
NM_021008.3:c.104G>A (DEAF1)	NP_066288.2:p.Gly35Asp
ENST00000382409.3:c.104G>A (DEAF1)	ENSP00000371846.3:p.Gly35Asp
ENST00000524763.5:c.-227+469C>T (EPS8L2)	ENSP00000435128.1:n.-227+469C>T
ENST00000525626.5:n.145-3346G>A (DEAF1)
ENST00000683307.1:c.-437-3346G>A (DEAF1)	ENSP00000507198.1:n.-437-3346G>A
ENST00000685854.1:c.-101G>A (DEAF1)	ENSP00000508801.1:n.-101G>A
ENST00000686001.1:c.-101G>A (DEAF1)	ENSP00000508459.1:n.-101G>A
ENST00000687329.1:c.-101G>A (DEAF1)	ENSP00000510598.1:n.-101G>A
ENST00000689835.1:c.-101G>A (DEAF1)	ENSP00000510621.1:n.-101G>A
ENST00000690068.1:c.-101G>A (DEAF1)	ENSP00000509089.1:n.-101G>A
ENST00000692634.1:c.-101G>A (DEAF1)	ENSP00000508859.1:n.-101G>A
ENST00000693164.1:n.98G>A (DEAF1)
XM_011519842.1:c.104G>A (DEAF1)	XP_011518144.1:p.Gly35Asp
XM_011519842.3:c.104G>A (DEAF1)	XP_011518144.1:p.Gly35Asp
XM_011519843.1:c.104G>A (DEAF1)	XP_011518145.1:p.Gly35Asp
XM_024448325.1:c.104G>A (DEAF1)	XP_024304093.1:p.Gly35Asp
XM_024448326.1:c.104G>A (DEAF1)	XP_024304094.1:p.Gly35Asp
XM_024448327.1:c.104G>A (DEAF1)	XP_024304095.1:p.Gly35Asp
XR_428838.2:n.110G>A (DEAF1)
XR_930843.1:n.110G>A (DEAF1)