Canonical Allele Identifier: CA1103162573

Gene: NCF1

Linked Data

• gnomAD v3: 7-74788987-GGGCCAGTGTGCGGGGCGGGGCGTCTGACTC-G
• gnomAD v4: 7-74788987-GGGCCAGTGTGCGGGGCGGGGCGTCTGACTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74788992_74789021del , CM000669.2:g.74788992_74789021del	GRCh38
NG_009078.2:g.20029_20058del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289473.11:c.1052-47_1052-18del MANE Select	ENSP00000289473.4:n.1052-47_1052-18del
ENST00000289473.10:c.1052-47_1052-18del	ENSP00000289473.4:n.1052-47_1052-18del
ENST00000289473.8:c.1052-47_1052-18del	ENSP00000289473.4:n.1052-47_1052-18del
ENST00000398421.6:n.2079-47_2079-18del
ENST00000455062.2:n.1161-47_1161-18del
NM_000265.5:c.1052-47_1052-18del	NP_000256.4:n.1052-47_1052-18del
XM_005250543.3:c.1014-47_1014-18del	XP_005250600.2:n.1014-47_1014-18del
XM_011516498.1:c.1051-47_1051-18del	XP_011514800.1:n.1051-47_1051-18del
XM_011516501.1:c.659-47_659-18del	XP_011514803.1:n.659-47_659-18del
NM_000265.6:c.1052-47_1052-18del	NP_000256.4:n.1052-47_1052-18del
NM_000265.7:c.1052-47_1052-18del MANE Select	NP_000256.4:n.1052-47_1052-18del