Canonical Allele Identifier: CA378933395

Gene: DEAF1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.687935G>C , CM000673.2:g.687935G>C	GRCh38
NC_000011.9:g.687935G>C , CM000673.1:g.687935G>C	GRCh37
NC_000011.8:g.677935G>C	NCBI36
NG_034156.1:g.12820C>G
NG_034156.2:g.24149C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_021008.4:c.640C>G MANE Select	NP_066288.2:p.Leu214Val
ENST00000382409.4:c.640C>G MANE Select	ENSP00000371846.3:p.Leu214Val
NM_001293634.1:c.640C>G	NP_001280563.1:p.Leu214Val
NM_001367390.1:c.-87C>G	NP_001354319.1:n.-87C>G
NM_021008.3:c.640C>G	NP_066288.2:p.Leu214Val
ENST00000382409.3:c.640C>G	ENSP00000371846.3:p.Leu214Val
ENST00000524786.1:n.452C>G
ENST00000525626.5:n.495C>G
ENST00000525626.6:n.525C>G
ENST00000527170.5:c.2C>G
ENST00000528864.5:n.507C>G
ENST00000528864.6:n.526C>G
ENST00000529717.5:c.604C>G
ENST00000529717.6:c.*345C>G	ENSP00000432518.2:n.*345C>G
ENST00000530813.2:c.*263C>G	ENSP00000508507.1:n.*263C>G
ENST00000682936.1:n.400C>G
ENST00000683307.1:c.-87C>G	ENSP00000507198.1:n.-87C>G
ENST00000684249.1:n.828C>G
ENST00000685854.1:c.436C>G	ENSP00000508801.1:p.Leu146Val
ENST00000686001.1:c.436C>G	ENSP00000508459.1:p.Leu146Val
ENST00000687329.1:c.436C>G	ENSP00000510598.1:p.Leu146Val
ENST00000689835.1:c.436C>G	ENSP00000510621.1:p.Leu146Val
ENST00000690068.1:c.436C>G	ENSP00000509089.1:p.Leu146Val
ENST00000692634.1:c.436C>G	ENSP00000508859.1:p.Leu146Val
ENST00000693164.1:n.634C>G
XM_011519842.1:c.640C>G	XP_011518144.1:p.Leu214Val
XM_011519842.3:c.640C>G	XP_011518144.1:p.Leu214Val
XM_011519843.1:c.640C>G	XP_011518145.1:p.Leu214Val
XM_024448325.1:c.640C>G	XP_024304093.1:p.Leu214Val
XM_024448326.1:c.640C>G	XP_024304094.1:p.Leu214Val
XM_024448327.1:c.640C>G	XP_024304095.1:p.Leu214Val
XR_428838.2:n.646C>G
XR_930843.1:n.646C>G