Canonical Allele Identifier: CA658658024

Gene: DEAF1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.681048_681050del , CM000673.2:g.681048_681050del	GRCh38
NC_000011.9:g.681048_681050del , CM000673.1:g.681048_681050del	GRCh37
NC_000011.8:g.671048_671050del	NCBI36
NG_034156.1:g.19708_19710del
NG_034156.2:g.31037_31039del

Transcript Alleles

HGVS	Amino-acid Change
NM_021008.4:c.913_915del MANE Select	NP_066288.2:p.Lys305del
ENST00000382409.4:c.913_915del MANE Select	ENSP00000371846.3:p.Lys305del
NM_001293634.1:c.731-1231_731-1229del	NP_001280563.1:n.731-1231_731-1229del
NM_001367390.1:c.187_189del	NP_001354319.1:p.Lys63del
NM_021008.3:c.913_915del	NP_066288.2:p.Lys305del
ENST00000382409.3:c.913_915del	ENSP00000371846.3:p.Lys305del
ENST00000525626.6:n.798_800del
ENST00000527170.5:c.275_277del
ENST00000528864.6:n.799_801del
ENST00000530813.1:n.117_119del
ENST00000530813.2:c.*536_*538del	ENSP00000508507.1:n.*536_*538del
ENST00000682936.1:n.673_675del
ENST00000683307.1:c.187_189del	ENSP00000507198.1:p.Lys63del
ENST00000685854.1:c.709_711del	ENSP00000508801.1:p.Lys237del
ENST00000686001.1:c.709_711del	ENSP00000508459.1:p.Lys237del
ENST00000687329.1:c.709_711del	ENSP00000510598.1:p.Lys237del
ENST00000689835.1:c.709_711del	ENSP00000510621.1:p.Lys237del
ENST00000690068.1:c.709_711del	ENSP00000509089.1:p.Lys237del
ENST00000692634.1:c.667-2225_667-2223del	ENSP00000508859.1:n.667-2225_667-2223del
ENST00000693164.1:n.907_909del
XM_011519842.1:c.913_915del	XP_011518144.1:p.Lys305del
XM_011519842.3:c.913_915del	XP_011518144.1:p.Lys305del
XM_011519843.1:c.913_915del	XP_011518145.1:p.Lys305del
XM_024448325.1:c.913_915del	XP_024304093.1:p.Lys305del
XM_024448326.1:c.913_915del	XP_024304094.1:p.Lys305del
XM_024448327.1:c.913_915del	XP_024304095.1:p.Lys305del
XR_428838.2:n.919_921del
XR_930843.1:n.919_921del