Canonical Allele Identifier: CA658684232

Gene: DNAAF3 DNAAF3-AS1

Linked Data

• ClinVar Variation Id: 495054
• ClinVar RCV Id: RCV000585680 ; RCV000627048 ; RCV001580000
• dbSNP Id: rs1349668884
• gnomAD v4: 19-55159416-C-CT
• MyVariant Identifiers: chr19:g.55670785dup (hg19) ; chr19:g.55670784_55670785insT (hg19) ; chr19:g.55159417dup (hg38) ; chr19:g.55159416_55159417insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55159417dup , CM000681.2:g.55159417dup	GRCh38
NC_000019.9:g.55670785dup , CM000681.1:g.55670785dup	GRCh37
NC_000019.8:g.60362597dup	NCBI36
NG_007866.2:g.3316dup , LRG_432:g.3316dup
NG_032759.1:g.12306dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524407.7:c.1271dup (DNAAF3) MANE Select	ENSP00000432046.3:p.Phe426IlefsTer?
ENST00000391720.8:c.1412dup (DNAAF3)	ENSP00000375600.5:p.Phe473IlefsTer?
ENST00000455045.5:c.1109dup (DNAAF3)	ENSP00000394343.1:p.Phe372IlefsTer?
ENST00000524407.6:c.1271dup (DNAAF3)	ENSP00000432046.2:p.Phe426IlefsTer?
ENST00000527223.6:c.1472dup (DNAAF3)	ENSP00000436975.2:p.Phe493IlefsTer?
ENST00000528412.5:c.*1059dup (DNAAF3)	ENSP00000433826.2:n.*1059dup
ENST00000533527.6:n.1033dup (DNAAF3)
ENST00000587789.2:n.356dup (DNAAF3)
ENST00000587871.1:c.255dup
ENST00000588076.1:c.270dup (DNAAF3)
NM_001256714.1:c.1472dup (DNAAF3)	NP_001243643.1:p.Phe493IlefsTer?
NM_001256715.1:c.1271dup (DNAAF3)	NP_001243644.1:p.Phe426IlefsTer?
NM_001256716.1:c.1109dup (DNAAF3)	NP_001243645.1:p.Phe372IlefsTer?
NM_178837.4:c.1412dup (DNAAF3)	NP_849159.2:p.Phe473IlefsTer?
XR_001754014.1:n.59dup (DNAAF3-AS1)
XR_001754015.1:n.79dup (DNAAF3-AS1)
NM_001256715.2:c.1271dup (DNAAF3) MANE Select	NP_001243644.1:p.Phe426IlefsTer?
NM_001256716.2:c.1109dup (DNAAF3)	NP_001243645.1:p.Phe372IlefsTer?