Canonical Allele Identifier: CA16617029

Linked Data

ClinVar Variation Id: 420120
dbSNP Id: rs1064794299

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183567224_183567225del , CM000663.2:g.183567224_183567225del GRCh38
NC_000001.10:g.183536359_183536360del , CM000663.1:g.183536359_183536360del GRCh37
NC_000001.9:g.181802982_181802983del NCBI36
NG_007267.1:g.28358_28359del , LRG_88:g.28358_28359del

Transcript Alleles

HGVS Amino-acid change
ENST00000697329.1:n.755_756del (NCF2)
ENST00000697330.1:c.835_836del (NCF2) ENSP00000513258.1:p.Thr279GlyfsTer16
ENST00000697351.1:c.727_728del (NCF2) ENSP00000513276.1:p.Thr243GlyfsTer16
ENST00000367535.8:c.835_836del (NCF2) MANE Select ENSP00000356505.4:p.Thr279GlyfsTer16
ENST00000367535.7:c.835_836del (NCF2) ENSP00000356505.3:p.Thr279GlyfsTer16
ENST00000367536.5:c.835_836del (NCF2) ENSP00000356506.1:p.Thr279GlyfsTer16
ENST00000413720.5:c.700_701del (NCF2) ENSP00000399294.1:p.Thr234GlyfsTer16
ENST00000418089.5:c.592_593del (NCF2) ENSP00000407217.1:p.Thr198GlyfsTer16
ENST00000419402.1:c.52_53del (NCF2) ENSP00000406198.1:p.Thr18GlyfsTer16
ENST00000420553.5:c.-123-1445_-123-1444del (NCF2) ENSP00000397228.1:n.-123-1445_-123-1444de...
ENST00000495321.1:n.233+16034_233+16035del (SMG7)
NM_000433.3:c.835_836del , LRG_88t1:c.835_836del (NCF2) NP_000424.2:p.Thr279GlyfsTer16
NM_001127651.2:c.835_836del (NCF2) NP_001121123.1:p.Thr279GlyfsTer16
NM_001190789.1:c.592_593del (NCF2) NP_001177718.1:p.Thr198GlyfsTer16
NM_001190794.1:c.700_701del (NCF2) NP_001177723.1:p.Thr234GlyfsTer16
XM_005245207.1:c.727_728del (NCF2) XP_005245264.1:p.Thr243GlyfsTer16
XM_011509580.1:c.835_836del (NCF2) XP_011507882.1:p.Thr279GlyfsTer16
XM_011509581.1:c.835_836del (NCF2) XP_011507883.1:p.Thr279GlyfsTer16
XR_921801.1:n.918-236_918-235del (NCF2)
NM_000433.4:c.835_836del (NCF2) MANE Select NP_000424.2:p.Thr279GlyfsTer16
NM_001127651.3:c.835_836del (NCF2) NP_001121123.1:p.Thr279GlyfsTer16
NM_001190789.2:c.592_593del (NCF2) NP_001177718.1:p.Thr198GlyfsTer16
NM_001190794.2:c.700_701del (NCF2) NP_001177723.1:p.Thr234GlyfsTer16