Canonical Allele Identifier: CA2649486346

Gene: NCF2 SMG7

Linked Data

• gnomAD v4: 1-183590691-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183590694del , CM000663.2:g.183590694del	GRCh38
NC_000001.10:g.183559829del , CM000663.1:g.183559829del	GRCh37
NC_000001.9:g.181826452del	NCBI36
NG_007267.1:g.4890del , LRG_88:g.4890del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697330.1:c.-31+148del (NCF2)	ENSP00000513258.1:n.-31+148del
ENST00000697353.1:n.14del (NCF2)
ENST00000367536.5:c.-31+148del (NCF2)	ENSP00000356506.1:n.-31+148del
ENST00000495321.1:n.234-7075del (SMG7)
NM_001127651.2:c.-31+148del (NCF2)	NP_001121123.1:n.-31+148del
XM_011509580.1:c.-100del (NCF2)	XP_011507882.1:n.-100del
NM_001127651.3:c.-31+148del (NCF2)	NP_001121123.1:n.-31+148del