Canonical Allele Identifier: CA490434184

Gene: DNAAF4 DNAAF4-CCPG1

Linked Data

• dbSNP Id: rs1185041684
• gnomAD v2: 15-55783329-T-TG
• gnomAD v4: 15-55491131-T-TG
• MyVariant Identifiers: chr15:g.55783329_55783330insG (hg19) ; chr15:g.55491131_55491132insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.55491132dup , CM000677.2:g.55491132dup	GRCh38
NC_000015.9:g.55783330dup , CM000677.1:g.55783330dup	GRCh37
NC_000015.8:g.53570622dup	NCBI36
NG_021213.1:g.22103dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321149.7:c.396dup (DNAAF4) MANE Select	ENSP00000323275.3:p.Met133HisfsTer5
ENST00000348518.4:c.396dup (DNAAF4)	ENSP00000299561.5:p.Met133HisfsTer5
ENST00000448430.6:c.396dup (DNAAF4)	ENSP00000403412.2:p.Met133HisfsTer5
ENST00000457155.6:c.396dup (DNAAF4)	ENSP00000402640.2:p.Met133HisfsTer5
ENST00000519017.1:n.411dup (DNAAF4)
ENST00000522437.1:c.*206dup (DNAAF4)	ENSP00000429219.1:n.*206dup
ENST00000524160.5:c.396dup (DNAAF4)	ENSP00000428097.1:p.Met133HisfsTer?
NM_001033559.2:c.396dup (DNAAF4)	NP_001028731.1:p.Met133HisfsTer5
NM_001033560.1:c.396dup (DNAAF4)	NP_001028732.1:p.Met133HisfsTer5
NM_130810.3:c.396dup (DNAAF4)	NP_570722.2:p.Met133HisfsTer5
NR_037923.1:n.651dup (DNAAF4-CCPG1)
NM_130810.4:c.396dup (DNAAF4) MANE Select	NP_570722.2:p.Met133HisfsTer5
NM_001033559.3:c.396dup (DNAAF4)	NP_001028731.1:p.Met133HisfsTer5
NM_001033560.2:c.396dup (DNAAF4)	NP_001028732.1:p.Met133HisfsTer5