Canonical Allele Identifier: CA2611731014

Gene: DEAF1

Linked Data

• gnomAD v4: 11-686778-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.686778G>T , CM000673.2:g.686778G>T	GRCh38
NC_000011.9:g.686778G>T , CM000673.1:g.686778G>T	GRCh37
NC_000011.8:g.676778G>T	NCBI36
NG_034156.1:g.13977C>A
NG_034156.2:g.25306C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525626.6:n.689+80C>A
ENST00000528864.6:n.690+80C>A
ENST00000530813.2:c.*427+80C>A	ENSP00000508507.1:n.*427+80C>A
ENST00000682936.1:n.564+80C>A
ENST00000683307.1:c.78+80C>A	ENSP00000507198.1:n.78+80C>A
ENST00000684249.1:n.992+80C>A
ENST00000685854.1:c.600+80C>A	ENSP00000508801.1:n.600+80C>A
ENST00000686001.1:c.600+80C>A	ENSP00000508459.1:n.600+80C>A
ENST00000687329.1:c.600+80C>A	ENSP00000510598.1:n.600+80C>A
ENST00000689835.1:c.600+80C>A	ENSP00000510621.1:n.600+80C>A
ENST00000690068.1:c.600+80C>A	ENSP00000509089.1:n.600+80C>A
ENST00000692634.1:c.600+80C>A	ENSP00000508859.1:n.600+80C>A
ENST00000693164.1:n.798+80C>A
ENST00000382409.4:c.804+80C>A MANE Select	ENSP00000371846.3:n.804+80C>A
ENST00000382409.3:c.804+80C>A	ENSP00000371846.3:n.804+80C>A
ENST00000527170.5:c.166+80C>A
NM_001293634.1:c.664+1133C>A	NP_001280563.1:n.664+1133C>A
NM_021008.3:c.804+80C>A	NP_066288.2:n.804+80C>A
XM_011519842.1:c.804+80C>A	XP_011518144.1:n.804+80C>A
XM_011519843.1:c.804+80C>A	XP_011518145.1:n.804+80C>A
XR_428838.2:n.810+80C>A
XR_930843.1:n.810+80C>A
XM_011519842.3:c.804+80C>A	XP_011518144.1:n.804+80C>A
XM_024448325.1:c.804+80C>A	XP_024304093.1:n.804+80C>A
XM_024448326.1:c.804+80C>A	XP_024304094.1:n.804+80C>A
XM_024448327.1:c.804+80C>A	XP_024304095.1:n.804+80C>A
NM_001367390.1:c.78+80C>A	NP_001354319.1:n.78+80C>A
NM_021008.4:c.804+80C>A MANE Select	NP_066288.2:n.804+80C>A