Canonical Allele Identifier: CA1211955929

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183560101_183560115delinsGATAACACCAGGATT , CM000663.2:g.183560101_183560115delinsGATAACACCAGGATT GRCh38
NC_000001.10:g.183529236_183529250delinsGATAACACCAGGATT , CM000663.1:g.183529236_183529250delinsGATAACACCAGGATT GRCh37
NC_000001.9:g.181795859_181795873delinsGATAACACCAGGATT NCBI36
NG_007267.1:g.35467_35481delinsAATCCTGGTGTTATC , LRG_88:g.35467_35481delinsAATCCTGGTGTTATC

Transcript Alleles

HGVS Amino-acid change
ENST00000469280.2:n.889_903delinsAATCCTGGTGTTATC (NCF2)
ENST00000697329.1:n.1369_1383delinsAATCCTGGTGTTATC (NCF2)
ENST00000697330.1:c.1449_1463delinsAATCCTGGTGTTATC (NCF2) ENSP00000513258.1:p.Ile483=
ENST00000697351.1:c.1341_1355delinsAATCCTGGTGTTATC (NCF2) ENSP00000513276.1:p.Ile447=
ENST00000367535.8:c.1449_1463delinsAATCCTGGTGTTATC (NCF2) MANE Select ENSP00000356505.4:p.Ile483=
ENST00000367535.7:c.1449_1463delinsAATCCTGGTGTTATC (NCF2) ENSP00000356505.3:p.Ile483=
ENST00000367536.5:c.1449_1463delinsAATCCTGGTGTTATC (NCF2) ENSP00000356506.1:p.Ile483=
ENST00000413720.5:c.1314_1328delinsAATCCTGGTGTTATC (NCF2) ENSP00000399294.1:p.Ile438=
ENST00000418089.5:c.1206_1220delinsAATCCTGGTGTTATC (NCF2) ENSP00000407217.1:p.Ile402=
ENST00000495321.1:n.233+8911_233+8925delinsGATAACACCAGGATT (SMG7)
NM_000433.3:c.1449_1463delinsAATCCTGGTGTTATC , LRG_88t1:c.1449_1463delinsAATCCTGGTGTTATC (NCF2) NP_000424.2:p.Ile483=
NM_001127651.2:c.1449_1463delinsAATCCTGGTGTTATC (NCF2) NP_001121123.1:p.Ile483=
NM_001190789.1:c.1206_1220delinsAATCCTGGTGTTATC (NCF2) NP_001177718.1:p.Ile402=
NM_001190794.1:c.1314_1328delinsAATCCTGGTGTTATC (NCF2) NP_001177723.1:p.Ile438=
XM_005245207.1:c.1341_1355delinsAATCCTGGTGTTATC (NCF2) XP_005245264.1:p.Ile447=
XM_011509580.1:c.1449_1463delinsAATCCTGGTGTTATC (NCF2) XP_011507882.1:p.Ile483=
XM_011509581.1:c.1449_1463delinsAATCCTGGTGTTATC (NCF2) XP_011507883.1:p.Ile483=
NM_000433.4:c.1449_1463delinsAATCCTGGTGTTATC (NCF2) MANE Select NP_000424.2:p.Ile483=
NM_001127651.3:c.1449_1463delinsAATCCTGGTGTTATC (NCF2) NP_001121123.1:p.Ile483=
NM_001190789.2:c.1206_1220delinsAATCCTGGTGTTATC (NCF2) NP_001177718.1:p.Ile402=
NM_001190794.2:c.1314_1328delinsAATCCTGGTGTTATC (NCF2) NP_001177723.1:p.Ile438=