Canonical Allele Identifier: CA8203199

Gene: DNAAF1 TAF1C

Linked Data

• ClinVar Variation Id: 320783
• ClinVar RCV Id: RCV000284723
• dbSNP Id: rs771825223
• ExAC: 16:84211488 ATGTC / A
• gnomAD v2: 16-84211488-ATGTC-A
• gnomAD v3: 16-84177882-ATGTC-A
• gnomAD v4: 16-84177882-ATGTC-A
• MyVariant Identifiers: chr16:g.84211490_84211493del (hg19) ; chr16:g.84211489_84211492del (hg19) ; chr16:g.84177884_84177887del (hg38) ; chr16:g.84177883_84177886del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.84177884_84177887del , CM000678.2:g.84177884_84177887del	GRCh38
NC_000016.9:g.84211490_84211493del , CM000678.1:g.84211490_84211493del	GRCh37
NC_000016.8:g.82768991_82768994del	NCBI36
NG_021174.1:g.37626_37629del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378553.10:c.*43_*46del (DNAAF1) MANE Select	ENSP00000367815.5:n.*43_*46del
ENST00000566732.6:c.*1055_*1058del (TAF1C) MANE Select	ENSP00000455933.1:n.*1055_*1058del
ENST00000341690.10:c.*1055_*1058del (TAF1C)	ENSP00000345305.6:n.*1055_*1058del
ENST00000378553.9:c.*43_*46del (DNAAF1)	ENSP00000367815.5:n.*43_*46del
ENST00000541676.5:c.*1055_*1058del (TAF1C)	ENSP00000437900.2:n.*1055_*1058del
ENST00000562024.1:n.693_696del (DNAAF1)
ENST00000563818.5:n.1898_1901del (DNAAF1)
ENST00000564208.5:n.3778_3781del (TAF1C)
ENST00000564774.5:n.4605_4608del (TAF1C)
ENST00000564928.1:c.160-506_160-503del (DNAAF1)
ENST00000566903.5:c.*1836_*1839del (TAF1C)	ENSP00000456133.1:n.*1836_*1839del
ENST00000567759.5:c.*1055_*1058del (TAF1C)	ENSP00000455265.1:n.*1055_*1058del
ENST00000569735.1:c.616_619del (DNAAF1)	ENSP00000454960.1:n.616_619del
ENST00000570298.5:n.4674_4677del (DNAAF1)
ENST00000623406.1:n.2657_2660del (DNAAF1)
NM_001243156.1:c.*1055_*1058del (TAF1C)	NP_001230085.1:n.*1055_*1058del
NM_001243157.1:c.*1055_*1058del (TAF1C)	NP_001230086.1:n.*1055_*1058del
NM_001243158.1:c.*1055_*1058del (TAF1C)	NP_001230087.1:n.*1055_*1058del
NM_001243159.1:c.*1055_*1058del (TAF1C)	NP_001230088.1:n.*1055_*1058del
NM_001243160.1:c.*1055_*1058del (TAF1C)	NP_001230089.1:n.*1055_*1058del
NM_005679.3:c.*1055_*1058del (TAF1C)	NP_005670.3:n.*1055_*1058del
NM_139353.2:c.*1055_*1058del (TAF1C)	NP_647610.2:n.*1055_*1058del
NM_178452.4:c.*43_*46del (DNAAF1)	NP_848547.4:n.*43_*46del
XM_005256226.2:c.*1055_*1058del (TAF1C)	XP_005256283.1:n.*1055_*1058del
XM_005256227.2:c.*1055_*1058del (TAF1C)	XP_005256284.1:n.*1055_*1058del
XM_006721129.1:c.*43_*46del (DNAAF1)	XP_006721192.1:n.*43_*46del
XM_006721325.2:c.*1055_*1058del (TAF1C)	XP_006721388.1:n.*1055_*1058del
XM_006721326.2:c.*1055_*1058del (TAF1C)	XP_006721389.1:n.*1055_*1058del
XM_011522850.1:c.*43_*46del (DNAAF1)	XP_011521152.1:n.*43_*46del
XM_011522851.1:c.*43_*46del (DNAAF1)	XP_011521153.1:n.*43_*46del
XM_011522852.1:c.*43_*46del (DNAAF1)	XP_011521154.1:n.*43_*46del
XM_011522853.1:c.*43_*46del (DNAAF1)	XP_011521155.1:n.*43_*46del
XM_011522854.1:c.*43_*46del (DNAAF1)	XP_011521156.1:n.*43_*46del
XM_011522855.1:c.*43_*46del (DNAAF1)	XP_011521157.1:n.*43_*46del
XM_011522856.1:c.*43_*46del (DNAAF1)	XP_011521158.1:n.*43_*46del
XM_011522859.1:c.*43_*46del (DNAAF1)	XP_011521161.1:n.*43_*46del
XM_011522860.1:c.*43_*46del (DNAAF1)	XP_011521162.1:n.*43_*46del
XM_011523432.1:c.*1055_*1058del (TAF1C)	XP_011521734.1:n.*1055_*1058del
NM_001318756.1:c.*43_*46del (DNAAF1)	NP_001305685.1:n.*43_*46del
NM_178452.5:c.*43_*46del (DNAAF1)	NP_848547.4:n.*43_*46del
XM_005256226.3:c.*1055_*1058del (TAF1C)	XP_005256283.1:n.*1055_*1058del
XM_005256227.3:c.*1055_*1058del (TAF1C)	XP_005256284.1:n.*1055_*1058del
XM_006721129.3:c.*43_*46del (DNAAF1)	XP_006721192.1:n.*43_*46del
XM_006721325.3:c.*1055_*1058del (TAF1C)	XP_006721388.1:n.*1055_*1058del
XM_006721326.3:c.*1055_*1058del (TAF1C)	XP_006721389.1:n.*1055_*1058del
XM_011522853.3:c.*43_*46del (DNAAF1)	XP_011521155.1:n.*43_*46del
XM_011522854.3:c.*43_*46del (DNAAF1)	XP_011521156.1:n.*43_*46del
XM_011522855.3:c.*43_*46del (DNAAF1)	XP_011521157.1:n.*43_*46del
XM_017022918.2:c.*43_*46del (DNAAF1)	XP_016878407.1:n.*43_*46del
XM_017022919.1:c.*43_*46del (DNAAF1)	XP_016878408.1:n.*43_*46del
XM_017022920.2:c.*43_*46del (DNAAF1)	XP_016878409.1:n.*43_*46del
XM_017022921.2:c.*43_*46del (DNAAF1)	XP_016878410.1:n.*43_*46del
XM_017022922.2:c.*43_*46del (DNAAF1)	XP_016878411.1:n.*43_*46del
XM_017023845.1:c.*1055_*1058del (TAF1C)	XP_016879334.1:n.*1055_*1058del
XM_017023846.1:c.*1055_*1058del (TAF1C)	XP_016879335.1:n.*1055_*1058del
XM_017023847.1:c.*1055_*1058del (TAF1C)	XP_016879336.1:n.*1055_*1058del
XR_001751829.2:n.2932_2935del (DNAAF1)
XR_001751830.2:n.2926_2929del (DNAAF1)
XR_001751831.2:n.2878_2881del (DNAAF1)
XR_001751832.1:n.5480_5483del (DNAAF1)
NM_178452.6:c.*43_*46del (DNAAF1) MANE Select	NP_848547.4:n.*43_*46del
NM_001243156.2:c.*1055_*1058del (TAF1C) MANE Select	NP_001230085.2:n.*1055_*1058del
NM_001243158.2:c.*1055_*1058del (TAF1C)	NP_001230087.1:n.*1055_*1058del
NM_001243159.2:c.*1055_*1058del (TAF1C)	NP_001230088.1:n.*1055_*1058del
NM_001243160.2:c.*1055_*1058del (TAF1C)	NP_001230089.1:n.*1055_*1058del
NM_005679.4:c.*1055_*1058del (TAF1C)	NP_005670.4:n.*1055_*1058del
NM_139353.3:c.*1055_*1058del (TAF1C)	NP_647610.3:n.*1055_*1058del
NM_001243157.2:c.*1055_*1058del (TAF1C)	NP_001230086.1:n.*1055_*1058del