Canonical Allele Identifier: CA1211968152

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183590565_183590568delinsAAAG , CM000663.2:g.183590565_183590568delinsAAAG GRCh38
NC_000001.10:g.183559700_183559703delinsAAAG , CM000663.1:g.183559700_183559703delinsAAAG GRCh37
NC_000001.9:g.181826323_181826326delinsAAAG NCBI36
NG_007267.1:g.5014_5017delinsCTTT , LRG_88:g.5014_5017delinsCTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000697330.1:c.-30-209_-30-206delinsCTTT (NCF2) ENSP00000513258.1:n.-30-209_-30-206delinsCTTT
ENST00000697352.1:n.24_27delinsCTTT (NCF2)
ENST00000697353.1:n.83+55_83+58delinsCTTT (NCF2)
ENST00000367535.7:c.-239_-236delinsCTTT (NCF2) ENSP00000356505.3:n.-239_-236delinsCTTT
ENST00000367536.5:c.-30-209_-30-206delinsCTTT (NCF2) ENSP00000356506.1:n.-30-209_-30-206delinsCTTT
ENST00000413720.5:c.-239_-236delinsCTTT (NCF2) ENSP00000399294.1:n.-239_-236delinsCTTT
ENST00000418089.5:c.-239_-236delinsCTTT (NCF2) ENSP00000407217.1:n.-239_-236delinsCTTT
ENST00000495321.1:n.234-7204_234-7201delinsAAAG (SMG7)
NM_000433.3:c.-239_-236delinsCTTT , LRG_88t1:c.-239_-236delinsCTTT (NCF2) NP_000424.2:n.-239_-236delinsCTTT
NM_001127651.2:c.-30-209_-30-206delinsCTTT (NCF2) NP_001121123.1:n.-30-209_-30-206delinsCTTT
NM_001190789.1:c.-239_-236delinsCTTT (NCF2) NP_001177718.1:n.-239_-236delinsCTTT
NM_001190794.1:c.-239_-236delinsCTTT (NCF2) NP_001177723.1:n.-239_-236delinsCTTT
XM_011509580.1:c.-31+55_-31+58delinsCTTT (NCF2) XP_011507882.1:n.-31+55_-31+58delinsCTTT
XM_011509581.1:c.-77_-74delinsCTTT (NCF2) XP_011507883.1:n.-77_-74delinsCTTT
NM_001127651.3:c.-30-209_-30-206delinsCTTT (NCF2) NP_001121123.1:n.-30-209_-30-206delinsCTTT