Canonical Allele Identifier: CA575376004

Gene: NCF1

Linked Data

• dbSNP Id: rs1554415087
• gnomAD v2: 7-74203574-GAGC-G
• MyVariant Identifiers: chr7:g.74203575_74203577del (hg19) ; chr7:g.74789231_74789233del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74789231_74789233del , CM000669.2:g.74789231_74789233del	GRCh38
NC_000007.13:g.74203575_74203577del , CM000669.1:g.74203575_74203577del	GRCh37
NC_000007.12:g.73841511_73841513del	NCBI36
NG_009078.2:g.20268_20270del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289473.11:c.*71_*73del MANE Select	ENSP00000289473.4:n.*71_*73del
ENST00000289473.10:c.*71_*73del	ENSP00000289473.4:n.*71_*73del
ENST00000289473.8:c.*71_*73del	ENSP00000289473.4:n.*71_*73del
ENST00000398421.6:n.2271_2273del
ENST00000455062.2:n.1353_1355del
NM_000265.5:c.*71_*73del	NP_000256.4:n.*71_*73del
XM_005250543.3:c.*165_*167del	XP_005250600.2:n.*165_*167del
XM_011516498.1:c.*118_*120del	XP_011514800.1:n.*118_*120del
XM_011516501.1:c.*71_*73del	XP_011514803.1:n.*71_*73del
NM_000265.6:c.*71_*73del	NP_000256.4:n.*71_*73del
NM_000265.7:c.*71_*73del MANE Select	NP_000256.4:n.*71_*73del