Canonical Allele Identifier: CA7575018

Gene: DNAAF4 DNAAF4-CCPG1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.55467052del , CM000677.2:g.55467052del	GRCh38
NC_000015.9:g.55759250del , CM000677.1:g.55759250del	GRCh37
NC_000015.8:g.53546542del	NCBI36
NG_021213.1:g.46191del

Transcript Alleles

HGVS	Amino-acid Change
NM_130810.4:c.523del (DNAAF4) MANE Select	NP_570722.2:p.Ile175PhefsTer21
ENST00000321149.7:c.523del (DNAAF4) MANE Select	ENSP00000323275.3:p.Ile175PhefsTer21
NM_001033559.2:c.523del (DNAAF4)	NP_001028731.1:p.Ile175PhefsTer21
NM_001033559.3:c.523del (DNAAF4)	NP_001028731.1:p.Ile175PhefsTer21
NM_001033560.1:c.523del (DNAAF4)	NP_001028732.1:p.Ile175PhefsTer21
NM_001033560.2:c.523del (DNAAF4)	NP_001028732.1:p.Ile175PhefsTer21
NM_130810.3:c.523del (DNAAF4)	NP_570722.2:p.Ile175PhefsTer21
NR_037923.1:n.778del (DNAAF4-CCPG1)
ENST00000348518.4:c.523del (DNAAF4)	ENSP00000299561.5:p.Ile175PhefsTer21
ENST00000448430.6:c.523del (DNAAF4)	ENSP00000403412.2:p.Ile175PhefsTer21
ENST00000457155.6:c.523del (DNAAF4)	ENSP00000402640.2:p.Ile175PhefsTer21
ENST00000522437.1:c.*333del (DNAAF4)	ENSP00000429219.1:n.*333del
ENST00000524160.5:c.406-16677del (DNAAF4)	ENSP00000428097.1:n.406-16677del