Canonical Allele Identifier: CA270799966

Gene: DNAAF4 DNAAF4-CCPG1

Linked Data

• dbSNP Id: rs959175056
• gnomAD v3: 15-55498410-CGCCA-C
• gnomAD v4: 15-55498410-CGCCA-C
• MyVariant Identifiers: chr15:g.55790609_55790612del (hg19) ; chr15:g.55498411_55498414del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.55498414_55498417del , CM000677.2:g.55498414_55498417del	GRCh38
NC_000015.9:g.55790612_55790615del , CM000677.1:g.55790612_55790615del	GRCh37
NC_000015.8:g.53577904_53577907del	NCBI36
NG_021213.1:g.14821_14824del

Transcript Alleles

HGVS	Amino-acid change
ENST00000321149.7:c.-85_-82del (DNAAF4) MANE Select	ENSP00000323275.3:n.-85_-82del
ENST00000348518.4:c.-85_-82del (DNAAF4)	ENSP00000299561.5:n.-85_-82del
NM_001033559.2:c.-85_-82del (DNAAF4)	NP_001028731.1:n.-85_-82del
NM_001033560.1:c.-85_-82del (DNAAF4)	NP_001028732.1:n.-85_-82del
NM_130810.3:c.-85_-82del (DNAAF4)	NP_570722.2:n.-85_-82del
NR_037923.1:n.171_174del (DNAAF4-CCPG1)
NM_130810.4:c.-85_-82del (DNAAF4) MANE Select	NP_570722.2:n.-85_-82del
NM_001033559.3:c.-85_-82del (DNAAF4)	NP_001028731.1:n.-85_-82del
NM_001033560.2:c.-85_-82del (DNAAF4)	NP_001028732.1:n.-85_-82del