Canonical Allele Identifier: CA378926624

Gene: DEAF1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.679801G>A , CM000673.2:g.679801G>A	GRCh38
NC_000011.9:g.679801G>A , CM000673.1:g.679801G>A	GRCh37
NC_000011.8:g.669801G>A	NCBI36
NG_034156.1:g.20954C>T
NG_034156.2:g.32283C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_021008.4:c.1013C>T MANE Select	NP_066288.2:p.Ser338Leu
ENST00000382409.4:c.1013C>T MANE Select	ENSP00000371846.3:p.Ser338Leu
NM_001293634.1:c.746C>T	NP_001280563.1:p.Ser249Leu
NM_001367390.1:c.287C>T	NP_001354319.1:p.Ser96Leu
NM_021008.3:c.1013C>T	NP_066288.2:p.Ser338Leu
ENST00000382409.3:c.1013C>T	ENSP00000371846.3:p.Ser338Leu
ENST00000525626.6:n.898C>T
ENST00000525904.5:n.196C>T
ENST00000527170.5:c.375C>T
ENST00000528864.6:n.899C>T
ENST00000530813.1:n.217C>T
ENST00000530813.2:c.*636C>T	ENSP00000508507.1:n.*636C>T
ENST00000682936.1:n.773C>T
ENST00000683307.1:c.287C>T	ENSP00000507198.1:p.Ser96Leu
ENST00000685854.1:c.809C>T	ENSP00000508801.1:p.Ser270Leu
ENST00000686001.1:c.809C>T	ENSP00000508459.1:p.Ser270Leu
ENST00000687329.1:c.809C>T	ENSP00000510598.1:p.Ser270Leu
ENST00000689835.1:c.809C>T	ENSP00000510621.1:p.Ser270Leu
ENST00000690068.1:c.809C>T	ENSP00000509089.1:p.Ser270Leu
ENST00000692634.1:c.667-979C>T	ENSP00000508859.1:n.667-979C>T
XM_011519842.1:c.1013C>T	XP_011518144.1:p.Ser338Leu
XM_011519842.3:c.1013C>T	XP_011518144.1:p.Ser338Leu
XM_011519843.1:c.1013C>T	XP_011518145.1:p.Ser338Leu
XM_024448325.1:c.1013C>T	XP_024304093.1:p.Ser338Leu
XM_024448326.1:c.1013C>T	XP_024304094.1:p.Ser338Leu
XM_024448327.1:c.1013C>T	XP_024304095.1:p.Ser338Leu
XR_428838.2:n.1019C>T
XR_930843.1:n.1019C>T