Canonical Allele Identifier: CA1211968070

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183590371_183590375delinsCAGAG , CM000663.2:g.183590371_183590375delinsCAGAG GRCh38
NC_000001.10:g.183559506_183559510delinsCAGAG , CM000663.1:g.183559506_183559510delinsCAGAG GRCh37
NC_000001.9:g.181826129_181826133delinsCAGAG NCBI36
NG_007267.1:g.5207_5211delinsCTCTG , LRG_88:g.5207_5211delinsCTCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000697330.1:c.-30-16_-30-12delinsCTCTG (NCF2) ENSP00000513258.1:n.-30-16_-30-12delinsCTCTG
ENST00000697351.1:c.-46_-42delinsCTCTG (NCF2) ENSP00000513276.1:n.-46_-42delinsCTCTG
ENST00000697352.1:n.71-16_71-12delinsCTCTG (NCF2)
ENST00000697353.1:n.84-16_84-12delinsCTCTG (NCF2)
ENST00000367535.8:c.-46_-42delinsCTCTG (NCF2) MANE Select ENSP00000356505.4:n.-46_-42delinsCTCTG
ENST00000367535.7:c.-46_-42delinsCTCTG (NCF2) ENSP00000356505.3:n.-46_-42delinsCTCTG
ENST00000367536.5:c.-30-16_-30-12delinsCTCTG (NCF2) ENSP00000356506.1:n.-30-16_-30-12delinsCTCTG
ENST00000413720.5:c.-46_-42delinsCTCTG (NCF2) ENSP00000399294.1:n.-46_-42delinsCTCTG
ENST00000418089.5:c.-46_-42delinsCTCTG (NCF2) ENSP00000407217.1:n.-46_-42delinsCTCTG
ENST00000495321.1:n.234-7398_234-7394delinsCAGAG (SMG7)
NM_000433.3:c.-46_-42delinsCTCTG , LRG_88t1:c.-46_-42delinsCTCTG (NCF2) NP_000424.2:n.-46_-42delinsCTCTG
NM_001127651.2:c.-30-16_-30-12delinsCTCTG (NCF2) NP_001121123.1:n.-30-16_-30-12delinsCTCTG
NM_001190789.1:c.-46_-42delinsCTCTG (NCF2) NP_001177718.1:n.-46_-42delinsCTCTG
NM_001190794.1:c.-46_-42delinsCTCTG (NCF2) NP_001177723.1:n.-46_-42delinsCTCTG
XM_005245207.1:c.-46_-42delinsCTCTG (NCF2) XP_005245264.1:n.-46_-42delinsCTCTG
XM_011509580.1:c.-30-16_-30-12delinsCTCTG (NCF2) XP_011507882.1:n.-30-16_-30-12delinsCTCTG
XM_011509581.1:c.-30-16_-30-12delinsCTCTG (NCF2) XP_011507883.1:n.-30-16_-30-12delinsCTCTG
XR_921801.1:n.159_163delinsCTCTG (NCF2)
NM_000433.4:c.-46_-42delinsCTCTG (NCF2) MANE Select NP_000424.2:n.-46_-42delinsCTCTG
NM_001127651.3:c.-30-16_-30-12delinsCTCTG (NCF2) NP_001121123.1:n.-30-16_-30-12delinsCTCTG
NM_001190789.2:c.-46_-42delinsCTCTG (NCF2) NP_001177718.1:n.-46_-42delinsCTCTG
NM_001190794.2:c.-46_-42delinsCTCTG (NCF2) NP_001177723.1:n.-46_-42delinsCTCTG