Canonical Allele Identifier: CA2611731186

Gene: DEAF1

Linked Data

• gnomAD v4: 11-686867-G-GGA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.686867_686868insGA , CM000673.2:g.686867_686868insGA	GRCh38
NC_000011.9:g.686867_686868insGA , CM000673.1:g.686867_686868insGA	GRCh37
NC_000011.8:g.676867_676868insGA	NCBI36
NG_034156.1:g.13887_13888insTC
NG_034156.2:g.25216_25217insTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525626.6:n.679_680insTC
ENST00000528864.6:n.680_681insTC
ENST00000530813.2:c.*417_*418insTC	ENSP00000508507.1:n.*417_*418insTC
ENST00000682936.1:n.554_555insTC
ENST00000683307.1:c.68_69insTC	ENSP00000507198.1:p.Leu24ProfsTer8
ENST00000684249.1:n.982_983insTC
ENST00000685854.1:c.590_591insTC	ENSP00000508801.1:p.Leu198ProfsTer8
ENST00000686001.1:c.590_591insTC	ENSP00000508459.1:p.Leu198ProfsTer8
ENST00000687329.1:c.590_591insTC	ENSP00000510598.1:p.Leu198ProfsTer8
ENST00000689835.1:c.590_591insTC	ENSP00000510621.1:p.Leu198ProfsTer8
ENST00000690068.1:c.590_591insTC	ENSP00000509089.1:p.Leu198ProfsTer8
ENST00000692634.1:c.590_591insTC	ENSP00000508859.1:p.Leu198ProfsTer8
ENST00000693164.1:n.788_789insTC
ENST00000382409.4:c.794_795insTC MANE Select	ENSP00000371846.3:p.Leu266ProfsTer8
ENST00000382409.3:c.794_795insTC	ENSP00000371846.3:p.Leu266ProfsTer8
ENST00000527170.5:c.156_157insTC
NM_001293634.1:c.664+1043_664+1044insTC	NP_001280563.1:n.664+1043_664+1044insTC
NM_021008.3:c.794_795insTC	NP_066288.2:p.Leu266ProfsTer8
XM_011519842.1:c.794_795insTC	XP_011518144.1:p.Leu266ProfsTer8
XM_011519843.1:c.794_795insTC	XP_011518145.1:p.Leu266ProfsTer8
XR_428838.2:n.800_801insTC
XR_930843.1:n.800_801insTC
XM_011519842.3:c.794_795insTC	XP_011518144.1:p.Leu266ProfsTer8
XM_024448325.1:c.794_795insTC	XP_024304093.1:p.Leu266ProfsTer8
XM_024448326.1:c.794_795insTC	XP_024304094.1:p.Leu266ProfsTer8
XM_024448327.1:c.794_795insTC	XP_024304095.1:p.Leu266ProfsTer8
NM_001367390.1:c.68_69insTC	NP_001354319.1:p.Leu24ProfsTer8
NM_021008.4:c.794_795insTC MANE Select	NP_066288.2:p.Leu266ProfsTer8