Canonical Allele Identifier: CA5786099

Gene: DEAF1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.644608G>C , CM000673.2:g.644608G>C	GRCh38
NC_000011.9:g.644608G>C , CM000673.1:g.644608G>C	GRCh37
NC_000011.8:g.634608G>C	NCBI36
NG_034156.1:g.56147C>G
NG_034156.2:g.67476C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_021008.4:c.1640C>G MANE Select	NP_066288.2:p.Thr547Ser
ENST00000382409.4:c.1640C>G MANE Select	ENSP00000371846.3:p.Thr547Ser
NM_001293634.1:c.1415C>G	NP_001280563.1:p.Thr472Ser
NM_001367390.1:c.914C>G	NP_001354319.1:p.Thr305Ser
NM_021008.3:c.1640C>G	NP_066288.2:p.Thr547Ser
ENST00000382409.3:c.1640C>G	ENSP00000371846.3:p.Thr547Ser
ENST00000525626.6:n.1525C>G
ENST00000527170.5:c.1248C>G
ENST00000527658.1:n.317C>G
ENST00000528864.6:n.1526C>G
ENST00000682936.1:n.1400C>G
ENST00000683307.1:c.914C>G	ENSP00000507198.1:p.Thr305Ser
ENST00000685854.1:c.1742C>G	ENSP00000508801.1:p.Thr581Ser
ENST00000686001.1:c.*85C>G	ENSP00000508459.1:n.*85C>G
ENST00000687329.1:c.*475C>G	ENSP00000510598.1:n.*475C>G
ENST00000690068.1:c.1307C>G	ENSP00000509089.1:p.Thr436Ser
ENST00000692634.1:c.*385C>G	ENSP00000508859.1:n.*385C>G
XM_024448325.1:c.*200C>G	XP_024304093.1:n.*200C>G
XM_024448326.1:c.*249C>G	XP_024304094.1:n.*249C>G
XM_024448327.1:c.*475C>G	XP_024304095.1:n.*475C>G
XR_428838.2:n.1892C>G