Canonical Allele Identifier: CA2683317878

Gene: NCF1

Linked Data

• gnomAD v4: 7-74788916-GGAGGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74788922_74788926del , CM000669.2:g.74788922_74788926del	GRCh38
NC_000007.13:g.74203266_74203270del , CM000669.1:g.74203266_74203270del	GRCh37
NC_000007.12:g.73841202_73841206del	NCBI36
NG_009078.2:g.19959_19963del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289473.11:c.1052-117_1052-113del MANE Select	ENSP00000289473.4:n.1052-117_1052-113del
ENST00000289473.10:c.1052-117_1052-113del	ENSP00000289473.4:n.1052-117_1052-113del
ENST00000289473.8:c.1052-117_1052-113del	ENSP00000289473.4:n.1052-117_1052-113del
ENST00000398421.6:n.2079-117_2079-113del
ENST00000455062.2:n.1161-117_1161-113del
NM_000265.5:c.1052-117_1052-113del	NP_000256.4:n.1052-117_1052-113del
XM_005250543.3:c.1014-117_1014-113del	XP_005250600.2:n.1014-117_1014-113del
XM_011516498.1:c.1051-117_1051-113del	XP_011514800.1:n.1051-117_1051-113del
XM_011516501.1:c.659-117_659-113del	XP_011514803.1:n.659-117_659-113del
NM_000265.6:c.1052-117_1052-113del	NP_000256.4:n.1052-117_1052-113del
NM_000265.7:c.1052-117_1052-113del MANE Select	NP_000256.4:n.1052-117_1052-113del