Canonical Allele Identifier: CA2634600376

Gene: DNAAF1

Linked Data

• gnomAD v4: 16-84159725-CAGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.84159728_84159730del , CM000678.2:g.84159728_84159730del	GRCh38
NC_000016.9:g.84193333_84193335del , CM000678.1:g.84193333_84193335del	GRCh37
NC_000016.8:g.82750834_82750836del	NCBI36
NG_021174.1:g.19469_19471del

Transcript Alleles

HGVS	Amino-acid change
ENST00000378553.10:c.795_797del MANE Select	ENSP00000367815.5:p.Arg266del
ENST00000378553.9:c.795_797del	ENSP00000367815.5:p.Arg266del
ENST00000563093.5:c.795_797del	ENSP00000457373.1:p.Arg266del
ENST00000563818.5:n.424_426del
ENST00000567666.1:n.184_186del
ENST00000567918.5:c.*114_*116del	ENSP00000455154.1:n.*114_*116del
ENST00000570298.5:n.949_951del
NM_178452.4:c.795_797del	NP_848547.4:p.Arg266del
XM_006721129.1:c.795_797del	XP_006721192.1:p.Arg266del
XM_011522850.1:c.795_797del	XP_011521152.1:p.Arg266del
XM_011522851.1:c.795_797del	XP_011521153.1:p.Arg266del
XM_011522852.1:c.795_797del	XP_011521154.1:p.Arg266del
XM_011522853.1:c.795_797del	XP_011521155.1:p.Arg266del
XM_011522854.1:c.795_797del	XP_011521156.1:p.Arg266del
XM_011522855.1:c.795_797del	XP_011521157.1:p.Arg266del
XM_011522856.1:c.534_536del	XP_011521158.1:p.Arg179del
XM_011522857.1:c.795_797del	XP_011521159.1:p.Arg266del
XM_011522858.1:c.795_797del	XP_011521160.1:p.Arg266del
XM_011522859.1:c.39_41del	XP_011521161.1:p.Arg14del
XM_011522860.1:c.39_41del	XP_011521162.1:p.Arg14del
NM_001318756.1:c.39_41del	NP_001305685.1:p.Arg14del
NM_178452.5:c.795_797del	NP_848547.4:p.Arg266del
XM_006721129.3:c.795_797del	XP_006721192.1:p.Arg266del
XM_011522853.3:c.795_797del	XP_011521155.1:p.Arg266del
XM_011522854.3:c.795_797del	XP_011521156.1:p.Arg266del
XM_011522855.3:c.795_797del	XP_011521157.1:p.Arg266del
XM_011522857.3:c.795_797del	XP_011521159.1:p.Arg266del
XM_011522858.3:c.795_797del	XP_011521160.1:p.Arg266del
XM_017022918.2:c.795_797del	XP_016878407.1:p.Arg266del
XM_017022919.1:c.534_536del	XP_016878408.1:p.Arg179del
XM_017022920.2:c.39_41del	XP_016878409.1:p.Arg14del
XM_017022921.2:c.39_41del	XP_016878410.1:p.Arg14del
XM_017022922.2:c.39_41del	XP_016878411.1:p.Arg14del
XR_001751829.2:n.969_971del
XR_001751830.2:n.969_971del
XR_001751831.2:n.969_971del
XR_001751832.1:n.1278_1280del
NM_178452.6:c.795_797del MANE Select	NP_848547.4:p.Arg266del