Canonical Allele Identifier: CA2586967888

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183563479_183563484del , CM000663.2:g.183563479_183563484del GRCh38
NC_000001.10:g.183532614_183532619del , CM000663.1:g.183532614_183532619del GRCh37
NC_000001.9:g.181799237_181799242del NCBI36
NG_007267.1:g.32100_32105del , LRG_88:g.32100_32105del

Transcript Alleles

HGVS Amino-acid Change
ENST00000469280.2:n.570_575del (NCF2)
ENST00000697329.1:n.1050_1055del (NCF2)
ENST00000697330.1:c.1130_1135del (NCF2) ENSP00000513258.1:p.Asp377_Met378del
ENST00000697351.1:c.1022_1027del (NCF2) ENSP00000513276.1:p.Asp341_Met342del
ENST00000367535.8:c.1130_1135del (NCF2) MANE Select ENSP00000356505.4:p.Asp377_Met378del
ENST00000367535.7:c.1130_1135del (NCF2) ENSP00000356505.3:p.Asp377_Met378del
ENST00000367536.5:c.1130_1135del (NCF2) ENSP00000356506.1:p.Asp377_Met378del
ENST00000413720.5:c.995_1000del (NCF2) ENSP00000399294.1:p.Asp332_Met333del
ENST00000418089.5:c.887_892del (NCF2) ENSP00000407217.1:p.Asp296_Met297del
ENST00000419402.1:c.347_352del (NCF2) ENSP00000406198.1:p.Asp116_Met117del
ENST00000420553.5:c.83_88del (NCF2) ENSP00000397228.1:p.Asp28_Met29del
ENST00000469280.1:n.570_575del (NCF2)
ENST00000495321.1:n.233+12289_233+12294del (SMG7)
NM_000433.3:c.1130_1135del , LRG_88t1:c.1130_1135del (NCF2) NP_000424.2:p.Asp377_Met378del
NM_001127651.2:c.1130_1135del (NCF2) NP_001121123.1:p.Asp377_Met378del
NM_001190789.1:c.887_892del (NCF2) NP_001177718.1:p.Asp296_Met297del
NM_001190794.1:c.995_1000del (NCF2) NP_001177723.1:p.Asp332_Met333del
XM_005245207.1:c.1022_1027del (NCF2) XP_005245264.1:p.Asp341_Met342del
XM_011509580.1:c.1130_1135del (NCF2) XP_011507882.1:p.Asp377_Met378del
XM_011509581.1:c.1130_1135del (NCF2) XP_011507883.1:p.Asp377_Met378del
XR_921801.1:n.1192_1197del (NCF2)
NM_000433.4:c.1130_1135del (NCF2) MANE Select NP_000424.2:p.Asp377_Met378del
NM_001127651.3:c.1130_1135del (NCF2) NP_001121123.1:p.Asp377_Met378del
NM_001190789.2:c.887_892del (NCF2) NP_001177718.1:p.Asp296_Met297del
NM_001190794.2:c.995_1000del (NCF2) NP_001177723.1:p.Asp332_Met333del