Canonical Allele Identifier: CA934295271

Gene: DEAF1

Linked Data

• dbSNP Id: rs1860617370
• gnomAD v3: 11-686898-CTTCT-C
• gnomAD v4: 11-686898-CTTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.686901_686904del , CM000673.2:g.686901_686904del	GRCh38
NC_000011.9:g.686901_686904del , CM000673.1:g.686901_686904del	GRCh37
NC_000011.8:g.676901_676904del	NCBI36
NG_034156.1:g.13853_13856del
NG_034156.2:g.25182_25185del

Transcript Alleles

HGVS	Amino-acid change
ENST00000525626.6:n.645_648del
ENST00000528864.6:n.646_649del
ENST00000530813.2:c.*383_*386del	ENSP00000508507.1:n.*383_*386del
ENST00000682936.1:n.520_523del
ENST00000683307.1:c.34_37del	ENSP00000507198.1:p.Arg12AlafsTer18
ENST00000684249.1:n.948_951del
ENST00000685854.1:c.556_559del	ENSP00000508801.1:p.Arg186AlafsTer18
ENST00000686001.1:c.556_559del	ENSP00000508459.1:p.Arg186AlafsTer18
ENST00000687329.1:c.556_559del	ENSP00000510598.1:p.Arg186AlafsTer18
ENST00000689835.1:c.556_559del	ENSP00000510621.1:p.Arg186AlafsTer18
ENST00000690068.1:c.556_559del	ENSP00000509089.1:p.Arg186AlafsTer18
ENST00000692634.1:c.556_559del	ENSP00000508859.1:p.Arg186AlafsTer18
ENST00000693164.1:n.754_757del
ENST00000382409.4:c.760_763del MANE Select	ENSP00000371846.3:p.Arg254AlafsTer18
ENST00000382409.3:c.760_763del	ENSP00000371846.3:p.Arg254AlafsTer18
ENST00000527170.5:c.122_125del
NM_001293634.1:c.664+1009_664+1012del	NP_001280563.1:n.664+1009_664+1012del
NM_021008.3:c.760_763del	NP_066288.2:p.Arg254AlafsTer18
XM_011519842.1:c.760_763del	XP_011518144.1:p.Arg254AlafsTer18
XM_011519843.1:c.760_763del	XP_011518145.1:p.Arg254AlafsTer18
XR_428838.2:n.766_769del
XR_930843.1:n.766_769del
XM_011519842.3:c.760_763del	XP_011518144.1:p.Arg254AlafsTer18
XM_024448325.1:c.760_763del	XP_024304093.1:p.Arg254AlafsTer18
XM_024448326.1:c.760_763del	XP_024304094.1:p.Arg254AlafsTer18
XM_024448327.1:c.760_763del	XP_024304095.1:p.Arg254AlafsTer18
NM_001367390.1:c.34_37del	NP_001354319.1:p.Arg12AlafsTer18
NM_021008.4:c.760_763del MANE Select	NP_066288.2:p.Arg254AlafsTer18