Canonical Allele Identifier: CA842142973

Gene: NCF1

Linked Data

• gnomAD v4: 7-74788994-T-TGGGCG
• MyVariant Identifiers: chr7:g.74788994_74788995insGGGCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74788995_74788996insGGCGG , CM000669.2:g.74788995_74788996insGGCGG	GRCh38
NC_000007.13:g.74203339_74203340insGGCGG , CM000669.1:g.74203339_74203340insGGCGG	GRCh37
NC_000007.12:g.73841275_73841276insGGCGG	NCBI36
NG_009078.2:g.20032_20033insGGCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289473.11:c.1052-44_1052-43insGGCGG MANE Select	ENSP00000289473.4:n.1052-44_1052-43insGGCGG
ENST00000289473.10:c.1052-44_1052-43insGGCGG	ENSP00000289473.4:n.1052-44_1052-43insGGCGG
ENST00000289473.8:c.1052-44_1052-43insGGCGG	ENSP00000289473.4:n.1052-44_1052-43insGGCGG
ENST00000398421.6:n.2079-44_2079-43insGGCGG
ENST00000455062.2:n.1161-44_1161-43insGGCGG
NM_000265.5:c.1052-44_1052-43insGGCGG	NP_000256.4:n.1052-44_1052-43insGGCGG
XM_005250543.3:c.1014-44_1014-43insGGCGG	XP_005250600.2:n.1014-44_1014-43insGGCGG
XM_011516498.1:c.1051-44_1051-43insGGCGG	XP_011514800.1:n.1051-44_1051-43insGGCGG
XM_011516501.1:c.659-44_659-43insGGCGG	XP_011514803.1:n.659-44_659-43insGGCGG
NM_000265.6:c.1052-44_1052-43insGGCGG	NP_000256.4:n.1052-44_1052-43insGGCGG
NM_000265.7:c.1052-44_1052-43insGGCGG MANE Select	NP_000256.4:n.1052-44_1052-43insGGCGG