Canonical Allele Identifier: CA2611730983

Gene: DEAF1

Linked Data

• gnomAD v4: 11-686745-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.686745T>C , CM000673.2:g.686745T>C	GRCh38
NC_000011.9:g.686745T>C , CM000673.1:g.686745T>C	GRCh37
NC_000011.8:g.676745T>C	NCBI36
NG_034156.1:g.14010A>G
NG_034156.2:g.25339A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525626.6:n.689+113A>G
ENST00000528864.6:n.690+113A>G
ENST00000530813.2:c.*427+113A>G	ENSP00000508507.1:n.*427+113A>G
ENST00000682936.1:n.564+113A>G
ENST00000683307.1:c.78+113A>G	ENSP00000507198.1:n.78+113A>G
ENST00000684249.1:n.992+113A>G
ENST00000685854.1:c.600+113A>G	ENSP00000508801.1:n.600+113A>G
ENST00000686001.1:c.600+113A>G	ENSP00000508459.1:n.600+113A>G
ENST00000687329.1:c.600+113A>G	ENSP00000510598.1:n.600+113A>G
ENST00000689835.1:c.600+113A>G	ENSP00000510621.1:n.600+113A>G
ENST00000690068.1:c.600+113A>G	ENSP00000509089.1:n.600+113A>G
ENST00000692634.1:c.600+113A>G	ENSP00000508859.1:n.600+113A>G
ENST00000693164.1:n.798+113A>G
ENST00000382409.4:c.804+113A>G MANE Select	ENSP00000371846.3:n.804+113A>G
ENST00000382409.3:c.804+113A>G	ENSP00000371846.3:n.804+113A>G
ENST00000527170.5:c.166+113A>G
NM_001293634.1:c.664+1166A>G	NP_001280563.1:n.664+1166A>G
NM_021008.3:c.804+113A>G	NP_066288.2:n.804+113A>G
XM_011519842.1:c.804+113A>G	XP_011518144.1:n.804+113A>G
XM_011519843.1:c.804+113A>G	XP_011518145.1:n.804+113A>G
XR_428838.2:n.810+113A>G
XR_930843.1:n.810+113A>G
XM_011519842.3:c.804+113A>G	XP_011518144.1:n.804+113A>G
XM_024448325.1:c.804+113A>G	XP_024304093.1:n.804+113A>G
XM_024448326.1:c.804+113A>G	XP_024304094.1:n.804+113A>G
XM_024448327.1:c.804+113A>G	XP_024304095.1:n.804+113A>G
NM_001367390.1:c.78+113A>G	NP_001354319.1:n.78+113A>G
NM_021008.4:c.804+113A>G MANE Select	NP_066288.2:n.804+113A>G