Canonical Allele Identifier: CA915948728

Gene: DEAF1 EPS8L2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.695014_695015dup , CM000673.2:g.695014_695015dup	GRCh38
NC_000011.9:g.695014_695015dup , CM000673.1:g.695014_695015dup	GRCh37
NC_000011.8:g.685014_685015dup	NCBI36
NG_034156.1:g.5741_5742dup
NG_034156.2:g.17070_17071dup

Transcript Alleles

HGVS	Amino-acid Change
NM_021008.4:c.34_35dup (DEAF1) MANE Select	NP_066288.2:p.Leu13AlafsTer?
ENST00000382409.4:c.34_35dup (DEAF1) MANE Select	ENSP00000371846.3:p.Leu13AlafsTer?
NM_001293634.1:c.34_35dup (DEAF1)	NP_001280563.1:p.Leu13AlafsTer?
NM_001367390.1:c.-437-3416_-437-3415dup (DEAF1)	NP_001354319.1:n.-437-3416_-437-3415dup
NM_021008.3:c.34_35dup (DEAF1)	NP_066288.2:p.Leu13AlafsTer?
ENST00000382409.3:c.34_35dup (DEAF1)	ENSP00000371846.3:p.Leu13AlafsTer?
ENST00000524763.5:c.-227+539_-227+540dup (EPS8L2)	ENSP00000435128.1:n.-227+539_-227+540dup
ENST00000525626.5:n.145-3416_145-3415dup (DEAF1)
ENST00000683307.1:c.-437-3416_-437-3415dup (DEAF1)	ENSP00000507198.1:n.-437-3416_-437-3415dup
ENST00000685854.1:c.-171_-170dup (DEAF1)	ENSP00000508801.1:n.-171_-170dup
ENST00000686001.1:c.-171_-170dup (DEAF1)	ENSP00000508459.1:n.-171_-170dup
ENST00000687329.1:c.-171_-170dup (DEAF1)	ENSP00000510598.1:n.-171_-170dup
ENST00000689835.1:c.-171_-170dup (DEAF1)	ENSP00000510621.1:n.-171_-170dup
ENST00000690068.1:c.-171_-170dup (DEAF1)	ENSP00000509089.1:n.-171_-170dup
ENST00000692634.1:c.-171_-170dup (DEAF1)	ENSP00000508859.1:n.-171_-170dup
ENST00000693164.1:n.28_29dup (DEAF1)
XM_011519842.1:c.34_35dup (DEAF1)	XP_011518144.1:p.Leu13AlafsTer?
XM_011519842.3:c.34_35dup (DEAF1)	XP_011518144.1:p.Leu13AlafsTer?
XM_011519843.1:c.34_35dup (DEAF1)	XP_011518145.1:p.Leu13AlafsTer?
XM_024448325.1:c.34_35dup (DEAF1)	XP_024304093.1:p.Leu13AlafsTer?
XM_024448326.1:c.34_35dup (DEAF1)	XP_024304094.1:p.Leu13AlafsTer?
XM_024448327.1:c.34_35dup (DEAF1)	XP_024304095.1:p.Leu13AlafsTer?
XR_428838.2:n.40_41dup (DEAF1)
XR_930843.1:n.40_41dup (DEAF1)