Canonical Allele Identifier: CA1139664013
Gene: DNAAF4 HGNC NCBI
DNAAF4-CCPG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 916127
ClinVar RCV Id: RCV001268925
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.55429628_55432757del , CM000677.2:g.55429628_55432757del GRCh38
NC_000015.9:g.55721826_55724955del , CM000677.1:g.55721826_55724955del GRCh37
NC_000015.8:g.53509118_53512247del NCBI36
NG_021213.1:g.80484_83613del

Transcript Alleles

HGVS Amino-acid change
ENST00000448430.6:c.1047+2154_1047+5283del (DNAAF4) ENSP00000403412.2:n.1047+2154_1047+5283del
ENST00000524160.5:c.*375-149_*480+2875del (DNAAF4)
NM_001033560.1:c.1047+2154_1047+5283del (DNAAF4) NP_001028732.1:n.1047+2154_1047+5283del
NR_037923.1:n.1303-149_1408+2875del (DNAAF4-CCPG1)
NM_001033560.2:c.1047+2154_1047+5283del (DNAAF4) NP_001028732.1:n.1047+2154_1047+5283del
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