Canonical Allele Identifier: CA1143371068

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183590566_183590571delinsAAGAAG , CM000663.2:g.183590566_183590571delinsAAGAAG GRCh38
NC_000001.10:g.183559701_183559706delinsAAGAAG , CM000663.1:g.183559701_183559706delinsAAGAAG GRCh37
NC_000001.9:g.181826324_181826329delinsAAGAAG NCBI36
NG_007267.1:g.5011_5016delinsCTTCTT , LRG_88:g.5011_5016delinsCTTCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000697330.1:c.-30-212_-30-207delinsCTTCTT (NCF2) ENSP00000513258.1:n.-30-212_-30-207delinsCTTCTT
ENST00000697352.1:n.21_26delinsCTTCTT (NCF2)
ENST00000697353.1:n.83+52_83+57delinsCTTCTT (NCF2)
ENST00000367535.7:c.-242_-237delinsCTTCTT (NCF2) ENSP00000356505.3:n.-242_-237delinsCTTCTT
ENST00000367536.5:c.-30-212_-30-207delinsCTTCTT (NCF2) ENSP00000356506.1:n.-30-212_-30-207delinsCTTCTT
ENST00000413720.5:c.-242_-237delinsCTTCTT (NCF2) ENSP00000399294.1:n.-242_-237delinsCTTCTT
ENST00000418089.5:c.-242_-237delinsCTTCTT (NCF2) ENSP00000407217.1:n.-242_-237delinsCTTCTT
ENST00000495321.1:n.234-7203_234-7198delinsAAGAAG (SMG7)
NM_000433.3:c.-242_-237delinsCTTCTT , LRG_88t1:c.-242_-237delinsCTTCTT (NCF2) NP_000424.2:n.-242_-237delinsCTTCTT
NM_001127651.2:c.-30-212_-30-207delinsCTTCTT (NCF2) NP_001121123.1:n.-30-212_-30-207delinsCTTCTT
NM_001190789.1:c.-242_-237delinsCTTCTT (NCF2) NP_001177718.1:n.-242_-237delinsCTTCTT
NM_001190794.1:c.-242_-237delinsCTTCTT (NCF2) NP_001177723.1:n.-242_-237delinsCTTCTT
XM_011509580.1:c.-31+52_-31+57delinsCTTCTT (NCF2) XP_011507882.1:n.-31+52_-31+57delinsCTTCTT
XM_011509581.1:c.-80_-75delinsCTTCTT (NCF2) XP_011507883.1:n.-80_-75delinsCTTCTT
NM_001127651.3:c.-30-212_-30-207delinsCTTCTT (NCF2) NP_001121123.1:n.-30-212_-30-207delinsCTTCTT