Canonical Allele Identifier: CA572067272
Community Standard Title: NM_017802.4(DNAAF5):c.2432-258_2432-182del
Gene: DNAAF5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.785259_785335del , CM000669.2:g.785259_785335del GRCh38
NC_000007.13:g.824896_824972del , CM000669.1:g.824896_824972del GRCh37
NC_000007.12:g.791422_791498del NCBI36
NG_033137.1:g.63559_63635del

Transcript Alleles

HGVS Amino-acid Change
NM_017802.4:c.2432-258_2432-182del MANE Select NP_060272.3:n.2432-258_2432-182del
ENST00000297440.11:c.2432-258_2432-182del MANE Select ENSP00000297440.6:n.2432-258_2432-182del
NM_017802.3:c.2432-258_2432-182del NP_060272.3:n.2432-258_2432-182del
NR_075098.1:n.2390-258_2390-182del
NR_075098.2:n.2392-258_2392-182del
ENST00000297440.10:c.2432-258_2432-182del ENSP00000297440.6:n.2432-258_2432-182del
ENST00000403952.3:c.707-258_707-182del ENSP00000384884.3:n.707-258_707-182del
ENST00000440747.5:c.1836-258_1836-182del
ENST00000461576.1:n.242-258_242-182del
XM_024446813.1:c.2240-258_2240-182del XP_024302581.1:n.2240-258_2240-182del
XM_024446814.1:c.1826-258_1826-182del XP_024302582.1:n.1826-258_1826-182del