Canonical Allele Identifier: CA2683317868

Gene: NCF1

Linked Data

• gnomAD v4: 7-74788897-AGAGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74788901_74788904del , CM000669.2:g.74788901_74788904del	GRCh38
NC_000007.13:g.74203245_74203248del , CM000669.1:g.74203245_74203248del	GRCh37
NC_000007.12:g.73841181_73841184del	NCBI36
NG_009078.2:g.19938_19941del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289473.11:c.1052-138_1052-135del MANE Select	ENSP00000289473.4:n.1052-138_1052-135del
ENST00000289473.10:c.1052-138_1052-135del	ENSP00000289473.4:n.1052-138_1052-135del
ENST00000289473.8:c.1052-138_1052-135del	ENSP00000289473.4:n.1052-138_1052-135del
ENST00000398421.6:n.2079-138_2079-135del
ENST00000455062.2:n.1161-138_1161-135del
NM_000265.5:c.1052-138_1052-135del	NP_000256.4:n.1052-138_1052-135del
XM_005250543.3:c.1014-138_1014-135del	XP_005250600.2:n.1014-138_1014-135del
XM_011516498.1:c.1051-138_1051-135del	XP_011514800.1:n.1051-138_1051-135del
XM_011516501.1:c.659-138_659-135del	XP_011514803.1:n.659-138_659-135del
NM_000265.6:c.1052-138_1052-135del	NP_000256.4:n.1052-138_1052-135del
NM_000265.7:c.1052-138_1052-135del MANE Select	NP_000256.4:n.1052-138_1052-135del