Canonical Allele Identifier: CA7575073

Gene: DNAAF4 DNAAF4-CCPG1

Linked Data

• dbSNP Id: rs748362263
• ExAC: 15:55783394 GCT / G
• gnomAD v2: 15-55783394-GCT-G
• gnomAD v4: 15-55491196-GCT-G
• MyVariant Identifiers: chr15:g.55783395_55783396del (hg19) ; chr15:g.55491197_55491198del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.55491203_55491204del , CM000677.2:g.55491203_55491204del	GRCh38
NC_000015.9:g.55783401_55783402del , CM000677.1:g.55783401_55783402del	GRCh37
NC_000015.8:g.53570693_53570694del	NCBI36
NG_021213.1:g.22037_22038del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321149.7:c.330_331del (DNAAF4) MANE Select	ENSP00000323275.3:p.Arg110SerfsTer27
ENST00000348518.4:c.330_331del (DNAAF4)	ENSP00000299561.5:p.Arg110SerfsTer27
ENST00000448430.6:c.330_331del (DNAAF4)	ENSP00000403412.2:p.Arg110SerfsTer27
ENST00000457155.6:c.330_331del (DNAAF4)	ENSP00000402640.2:p.Arg110SerfsTer27
ENST00000519017.1:n.345_346del (DNAAF4)
ENST00000522437.1:c.*140_*141del (DNAAF4)	ENSP00000429219.1:n.*140_*141del
ENST00000524160.5:c.330_331del (DNAAF4)	ENSP00000428097.1:p.Arg110SerfsTer?
NM_001033559.2:c.330_331del (DNAAF4)	NP_001028731.1:p.Arg110SerfsTer27
NM_001033560.1:c.330_331del (DNAAF4)	NP_001028732.1:p.Arg110SerfsTer27
NM_130810.3:c.330_331del (DNAAF4)	NP_570722.2:p.Arg110SerfsTer27
NR_037923.1:n.585_586del (DNAAF4-CCPG1)
NM_130810.4:c.330_331del (DNAAF4) MANE Select	NP_570722.2:p.Arg110SerfsTer27
NM_001033559.3:c.330_331del (DNAAF4)	NP_001028731.1:p.Arg110SerfsTer27
NM_001033560.2:c.330_331del (DNAAF4)	NP_001028732.1:p.Arg110SerfsTer27