Canonical Allele Identifier: CA9667979

Gene: DNAAF3 DNAAF3-AS1

Linked Data

• ClinVar Variation Id: 410279
• ClinVar RCV Id: RCV000477276 ; RCV002250632
• dbSNP Id: rs756430359
• ExAC: 19:55672058 T / TC
• gnomAD v2: 19-55672058-T-TC
• gnomAD v3: 19-55160690-T-TC
• gnomAD v4: 19-55160690-T-TC
• COSMIC: COSM4612402 ; COSM4612403 ; COSM4612404
• MyVariant Identifiers: chr19:g.55672059dupC (hg19) ; chr19:g.55672059_55672060insC (hg19) ; chr19:g.55672058_55672059insC (hg19) ; chr19:g.55160691dupC (hg38) ; chr19:g.55160690_55160691insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55160697dup , CM000681.2:g.55160697dup	GRCh38
NC_000019.9:g.55672065dup , CM000681.1:g.55672065dup	GRCh37
NC_000019.8:g.60363877dup	NCBI36
NG_007866.2:g.2042dup , LRG_432:g.2042dup
NG_032759.1:g.11032dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524407.7:c.997dup (DNAAF3) MANE Select	ENSP00000432046.3:p.Asp333GlyfsTer?
ENST00000391720.8:c.1138dup (DNAAF3)	ENSP00000375600.5:p.Asp380GlyfsTer?
ENST00000455045.5:c.835dup (DNAAF3)	ENSP00000394343.1:p.Asp279GlyfsTer?
ENST00000524407.6:c.997dup (DNAAF3)	ENSP00000432046.2:p.Asp333GlyfsTer?
ENST00000527223.6:c.1201dup (DNAAF3)	ENSP00000436975.2:p.Asp401GlyfsTer?
ENST00000528412.5:c.*785dup (DNAAF3)	ENSP00000433826.2:n.*785dup
ENST00000533527.6:n.759dup (DNAAF3)
NM_001256714.1:c.1201dup (DNAAF3)	NP_001243643.1:p.Asp401GlyfsTer?
NM_001256715.1:c.997dup (DNAAF3)	NP_001243644.1:p.Asp333GlyfsTer?
NM_001256716.1:c.835dup (DNAAF3)	NP_001243645.1:p.Asp279GlyfsTer?
NM_178837.4:c.1138dup (DNAAF3)	NP_849159.2:p.Asp380GlyfsTer?
XR_936074.1:n.146-398dup (DNAAF3-AS1)
XR_001754014.1:n.88-349dup (DNAAF3-AS1)
XR_001754015.1:n.108-398dup (DNAAF3-AS1)
XR_936074.2:n.150-398dup (DNAAF3-AS1)
NM_001256715.2:c.997dup (DNAAF3) MANE Select	NP_001243644.1:p.Asp333GlyfsTer?
NM_001256716.2:c.835dup (DNAAF3)	NP_001243645.1:p.Asp279GlyfsTer?