Canonical Allele Identifier: CA2649483504

Gene: NCF2 SMG7

Linked Data

• gnomAD v4: 1-183563377-TCCAGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183563382_183563386del , CM000663.2:g.183563382_183563386del	GRCh38
NC_000001.10:g.183532517_183532521del , CM000663.1:g.183532517_183532521del	GRCh37
NC_000001.9:g.181799140_181799144del	NCBI36
NG_007267.1:g.32200_32204del , LRG_88:g.32200_32204del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000469280.2:n.618+52_618+56del (NCF2)
ENST00000697329.1:n.1098+52_1098+56del (NCF2)
ENST00000697330.1:c.1178+52_1178+56del (NCF2)	ENSP00000513258.1:n.1178+52_1178+56del
ENST00000697351.1:c.1070+52_1070+56del (NCF2)	ENSP00000513276.1:n.1070+52_1070+56del
ENST00000367535.8:c.1178+52_1178+56del (NCF2) MANE Select	ENSP00000356505.4:n.1178+52_1178+56del
ENST00000367535.7:c.1178+52_1178+56del (NCF2)	ENSP00000356505.3:n.1178+52_1178+56del
ENST00000367536.5:c.1178+52_1178+56del (NCF2)	ENSP00000356506.1:n.1178+52_1178+56del
ENST00000413720.5:c.1043+52_1043+56del (NCF2)	ENSP00000399294.1:n.1043+52_1043+56del
ENST00000418089.5:c.935+52_935+56del (NCF2)	ENSP00000407217.1:n.935+52_935+56del
ENST00000419402.1:c.395+52_395+56del (NCF2)	ENSP00000406198.1:n.395+52_395+56del
ENST00000420553.5:c.131+52_131+56del (NCF2)	ENSP00000397228.1:n.131+52_131+56del
ENST00000469280.1:n.618+52_618+56del (NCF2)
ENST00000495321.1:n.233+12192_233+12196del (SMG7)
NM_000433.3:c.1178+52_1178+56del , LRG_88t1:c.1178+52_1178+56del (NCF2)	NP_000424.2:n.1178+52_1178+56del
NM_001127651.2:c.1178+52_1178+56del (NCF2)	NP_001121123.1:n.1178+52_1178+56del
NM_001190789.1:c.935+52_935+56del (NCF2)	NP_001177718.1:n.935+52_935+56del
NM_001190794.1:c.1043+52_1043+56del (NCF2)	NP_001177723.1:n.1043+52_1043+56del
XM_005245207.1:c.1070+52_1070+56del (NCF2)	XP_005245264.1:n.1070+52_1070+56del
XM_011509580.1:c.1178+52_1178+56del (NCF2)	XP_011507882.1:n.1178+52_1178+56del
XM_011509581.1:c.1178+52_1178+56del (NCF2)	XP_011507883.1:n.1178+52_1178+56del
XR_921801.1:n.1240+52_1240+56del (NCF2)
NM_000433.4:c.1178+52_1178+56del (NCF2) MANE Select	NP_000424.2:n.1178+52_1178+56del
NM_001127651.3:c.1178+52_1178+56del (NCF2)	NP_001121123.1:n.1178+52_1178+56del
NM_001190789.2:c.935+52_935+56del (NCF2)	NP_001177718.1:n.935+52_935+56del
NM_001190794.2:c.1043+52_1043+56del (NCF2)	NP_001177723.1:n.1043+52_1043+56del