Canonical Allele Identifier: CA913189915

Gene: NCF1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74782989del , CM000669.2:g.74782989del	GRCh38
NC_000007.13:g.74197332del , CM000669.1:g.74197332del	GRCh37
NC_000007.12:g.73835268del	NCBI36
NG_009078.2:g.14026del

Transcript Alleles

HGVS	Amino-acid Change
NM_000265.7:c.502del MANE Select	NP_000256.4:p.Glu168ArgfsTer19
ENST00000289473.11:c.502del MANE Select	ENSP00000289473.4:p.Glu168ArgfsTer19
NM_000265.5:c.502del	NP_000256.4:p.Glu168ArgfsTer19
NM_000265.6:c.502del	NP_000256.4:p.Glu168ArgfsTer19
ENST00000289473.10:c.502del	ENSP00000289473.4:p.Glu168ArgfsTer19
ENST00000289473.8:c.502del	ENSP00000289473.4:p.Glu168ArgfsTer19
ENST00000398421.6:n.596del
ENST00000443956.7:n.623del
ENST00000449343.6:n.523del
ENST00000455062.2:n.186del
ENST00000464878.5:c.352del
ENST00000488197.1:n.491del
XM_005250543.3:c.502del	XP_005250600.2:p.Glu168ArgfsTer19
XM_005250544.3:c.502del	XP_005250601.2:p.Glu168ArgfsTer19
XM_011516498.1:c.502del	XP_011514800.1:p.Glu168ArgfsTer19
XM_011516499.1:c.502del	XP_011514801.1:p.Glu168ArgfsTer19
XM_011516500.1:c.502del	XP_011514802.1:p.Glu168ArgfsTer19
XM_011516501.1:c.109del	XP_011514803.1:p.Glu37ArgfsTer19
XR_242262.3:n.557del
XR_927515.1:n.557del