Canonical Allele Identifier: CA2683317995
Gene: NCF1 HGNC NCBI

Linked Data

gnomAD v4: 7-74789208-G-GCA
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74789209_74789210insAC , CM000669.2:g.74789209_74789210insAC GRCh38
NC_000007.13:g.74203553_74203554insAC , CM000669.1:g.74203553_74203554insAC GRCh37
NC_000007.12:g.73841489_73841490insAC NCBI36
NG_009078.2:g.20246_20247insAC

Transcript Alleles

HGVS Amino-acid change
ENST00000289473.11:c.*49_*50insAC MANE Select ENSP00000289473.4:n.*49_*50insAC
ENST00000289473.10:c.*49_*50insAC ENSP00000289473.4:n.*49_*50insAC
ENST00000289473.8:c.*49_*50insAC ENSP00000289473.4:n.*49_*50insAC
ENST00000398421.6:n.2249_2250insAC
ENST00000455062.2:n.1331_1332insAC
NM_000265.5:c.*49_*50insAC NP_000256.4:n.*49_*50insAC
XM_005250543.3:c.*143_*144insAC XP_005250600.2:n.*143_*144insAC
XM_011516498.1:c.*96_*97insAC XP_011514800.1:n.*96_*97insAC
XM_011516501.1:c.*49_*50insAC XP_011514803.1:n.*49_*50insAC
NM_000265.6:c.*49_*50insAC NP_000256.4:n.*49_*50insAC
NM_000265.7:c.*49_*50insAC MANE Select NP_000256.4:n.*49_*50insAC
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