Canonical Allele Identifier: CA1211968153

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183590572_183590576delinsCAGAG , CM000663.2:g.183590572_183590576delinsCAGAG GRCh38
NC_000001.10:g.183559707_183559711delinsCAGAG , CM000663.1:g.183559707_183559711delinsCAGAG GRCh37
NC_000001.9:g.181826330_181826334delinsCAGAG NCBI36
NG_007267.1:g.5006_5010delinsCTCTG , LRG_88:g.5006_5010delinsCTCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000697330.1:c.-30-217_-30-213delinsCTCTG (NCF2) ENSP00000513258.1:n.-30-217_-30-213delinsCTCTG
ENST00000697352.1:n.16_20delinsCTCTG (NCF2)
ENST00000697353.1:n.83+47_83+51delinsCTCTG (NCF2)
ENST00000367535.7:c.-247_-243delinsCTCTG (NCF2) ENSP00000356505.3:n.-247_-243delinsCTCTG
ENST00000367536.5:c.-30-217_-30-213delinsCTCTG (NCF2) ENSP00000356506.1:n.-30-217_-30-213delinsCTCTG
ENST00000413720.5:c.-247_-243delinsCTCTG (NCF2) ENSP00000399294.1:n.-247_-243delinsCTCTG
ENST00000418089.5:c.-247_-243delinsCTCTG (NCF2) ENSP00000407217.1:n.-247_-243delinsCTCTG
ENST00000495321.1:n.234-7197_234-7193delinsCAGAG (SMG7)
NM_000433.3:c.-247_-243delinsCTCTG , LRG_88t1:c.-247_-243delinsCTCTG (NCF2) NP_000424.2:n.-247_-243delinsCTCTG
NM_001127651.2:c.-30-217_-30-213delinsCTCTG (NCF2) NP_001121123.1:n.-30-217_-30-213delinsCTCTG
NM_001190789.1:c.-247_-243delinsCTCTG (NCF2) NP_001177718.1:n.-247_-243delinsCTCTG
NM_001190794.1:c.-247_-243delinsCTCTG (NCF2) NP_001177723.1:n.-247_-243delinsCTCTG
XM_011509580.1:c.-31+47_-31+51delinsCTCTG (NCF2) XP_011507882.1:n.-31+47_-31+51delinsCTCTG
XM_011509581.1:c.-85_-81delinsCTCTG (NCF2) XP_011507883.1:n.-85_-81delinsCTCTG
NM_001127651.3:c.-30-217_-30-213delinsCTCTG (NCF2) NP_001121123.1:n.-30-217_-30-213delinsCTCTG