Canonical Allele Identifier: CA1947253070

Gene: DEAF1

Linked Data

• dbSNP Id: rs1860621980

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.686982_686986dup , CM000673.2:g.686982_686986dup	GRCh38
NC_000011.9:g.686982_686986dup , CM000673.1:g.686982_686986dup	GRCh37
NC_000011.8:g.676982_676986dup	NCBI36
NG_034156.1:g.13770_13774dup
NG_034156.2:g.25099_25103dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000525626.6:n.562_566dup
ENST00000528864.6:n.563_567dup
ENST00000529717.6:c.*382_*386dup	ENSP00000432518.2:n.*382_*386dup
ENST00000530813.2:c.*300_*304dup	ENSP00000508507.1:n.*300_*304dup
ENST00000682936.1:n.437_441dup
ENST00000683307.1:c.-50_-46dup	ENSP00000507198.1:n.-50_-46dup
ENST00000684249.1:n.865_869dup
ENST00000685854.1:c.473_477dup	ENSP00000508801.1:p.Ile160GlyfsTer?
ENST00000686001.1:c.473_477dup	ENSP00000508459.1:p.Ile160GlyfsTer?
ENST00000687329.1:c.473_477dup	ENSP00000510598.1:p.Ile160GlyfsTer?
ENST00000689835.1:c.473_477dup	ENSP00000510621.1:p.Ile160GlyfsTer?
ENST00000690068.1:c.473_477dup	ENSP00000509089.1:p.Ile160GlyfsTer?
ENST00000692634.1:c.473_477dup	ENSP00000508859.1:p.Ile160GlyfsTer?
ENST00000693164.1:n.671_675dup
ENST00000382409.4:c.677_681dup MANE Select	ENSP00000371846.3:p.Ile228GlyfsTer?
ENST00000382409.3:c.677_681dup	ENSP00000371846.3:p.Ile228GlyfsTer?
ENST00000525626.5:n.532_536dup
ENST00000527170.5:c.39_43dup
ENST00000528864.5:n.544_548dup
ENST00000529717.5:c.641_645dup
NM_001293634.1:c.664+926_664+930dup	NP_001280563.1:n.664+926_664+930dup
NM_021008.3:c.677_681dup	NP_066288.2:p.Ile228GlyfsTer?
XM_011519842.1:c.677_681dup	XP_011518144.1:p.Ile228GlyfsTer?
XM_011519843.1:c.677_681dup	XP_011518145.1:p.Ile228GlyfsTer?
XR_428838.2:n.683_687dup
XR_930843.1:n.683_687dup
XM_011519842.3:c.677_681dup	XP_011518144.1:p.Ile228GlyfsTer?
XM_024448325.1:c.677_681dup	XP_024304093.1:p.Ile228GlyfsTer?
XM_024448326.1:c.677_681dup	XP_024304094.1:p.Ile228GlyfsTer?
XM_024448327.1:c.677_681dup	XP_024304095.1:p.Ile228GlyfsTer?
NM_001367390.1:c.-50_-46dup	NP_001354319.1:n.-50_-46dup
NM_021008.4:c.677_681dup MANE Select	NP_066288.2:p.Ile228GlyfsTer?