Canonical Allele Identifier: CA212794

Linked Data

ClinVar Variation Id: 2245
dbSNP Id: rs796065033

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183590271_183590279del , CM000663.2:g.183590271_183590279del GRCh38
NC_000001.10:g.183559406_183559414del , CM000663.1:g.183559406_183559414del GRCh37
NC_000001.9:g.181826029_181826037del NCBI36
NG_007267.1:g.5307_5315del , LRG_88:g.5307_5315del

Transcript Alleles

HGVS Amino-acid change
ENST00000697330.1:c.55_63del (NCF2) ENSP00000513258.1:p.Lys19_Asp21del
ENST00000697351.1:c.55_63del (NCF2) ENSP00000513276.1:p.Lys19_Asp21del
ENST00000697352.1:n.155_163del (NCF2)
ENST00000697353.1:n.168_176del (NCF2)
ENST00000367535.8:c.55_63del (NCF2) MANE Select ENSP00000356505.4:p.Lys19_Asp21del
ENST00000367535.7:c.55_63del (NCF2) ENSP00000356505.3:p.Lys19_Asp21del
ENST00000367536.5:c.55_63del (NCF2) ENSP00000356506.1:p.Lys19_Asp21del
ENST00000413720.5:c.55_63del (NCF2) ENSP00000399294.1:p.Lys19_Asp21del
ENST00000418089.5:c.55_63del (NCF2) ENSP00000407217.1:p.Lys19_Asp21del
ENST00000495321.1:n.234-7498_234-7490del (SMG7)
NM_000433.3:c.55_63del , LRG_88t1:c.55_63del (NCF2) NP_000424.2:p.Lys19_Asp21del
NM_001127651.2:c.55_63del (NCF2) NP_001121123.1:p.Lys19_Asp21del
NM_001190789.1:c.55_63del (NCF2) NP_001177718.1:p.Lys19_Asp21del
NM_001190794.1:c.55_63del (NCF2) NP_001177723.1:p.Lys19_Asp21del
XM_005245207.1:c.55_63del (NCF2) XP_005245264.1:p.Lys19_Asp21del
XM_011509580.1:c.55_63del (NCF2) XP_011507882.1:p.Lys19_Asp21del
XM_011509581.1:c.55_63del (NCF2) XP_011507883.1:p.Lys19_Asp21del
XR_921801.1:n.259_267del (NCF2)
NM_000433.4:c.55_63del (NCF2) MANE Select NP_000424.2:p.Lys19_Asp21del
NM_001127651.3:c.55_63del (NCF2) NP_001121123.1:p.Lys19_Asp21del
NM_001190789.2:c.55_63del (NCF2) NP_001177718.1:p.Lys19_Asp21del
NM_001190794.2:c.55_63del (NCF2) NP_001177723.1:p.Lys19_Asp21del