Canonical Allele Identifier: CA204179189
Gene: NEBL HGNC NCBI

Linked Data

dbSNP Id: rs769033933

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.20896772del , CM000672.2:g.20896772del GRCh38
NC_000010.10:g.21185701del , CM000672.1:g.21185701del GRCh37
NC_000010.9:g.21225707del NCBI36
NG_017092.1:g.282416del , LRG_411:g.282416del

Transcript Alleles

HGVS Amino-acid Change
ENST00000377122.9:c.153+186del MANE Select ENSP00000366326.4:n.153+186del
ENST00000674540.1:n.440+186del
ENST00000675114.1:n.565+64900del
ENST00000675700.1:n.380+64900del
ENST00000675702.1:n.636+64900del
ENST00000675747.1:n.2515+186del
ENST00000377119.5:n.163+186del
ENST00000377122.8:c.153+186del ENSP00000366326.4:n.153+186del
ENST00000417816.2:c.357+64900del ENSP00000393896.2:n.357+64900del
ENST00000434381.1:c.105+186del ENSP00000396512.1:n.105+186del
NM_001173484.1:c.357+64900del NP_001166955.1:n.357+64900del
NM_006393.2:c.153+186del , LRG_411t2:c.153+186del NP_006384.1:n.153+186del
NM_213569.2:c.357+64900del , LRG_411t1:c.357+64900del NP_998734.1:n.357+64900del
XM_005252342.3:c.153+186del XP_005252399.1:n.153+186del
XM_005252343.3:c.153+186del XP_005252400.1:n.153+186del
XM_005252344.3:c.153+186del XP_005252401.1:n.153+186del
XM_011519290.1:c.105+186del XP_011517592.1:n.105+186del
XM_011519291.1:c.105+186del XP_011517593.1:n.105+186del
XR_242691.3:n.265+186del
XM_005252342.5:c.153+186del XP_005252399.1:n.153+186del
XM_005252343.5:c.153+186del XP_005252400.1:n.153+186del
XM_005252344.5:c.153+186del XP_005252401.1:n.153+186del
XM_011519291.2:c.105+186del XP_011517593.1:n.105+186del
XM_017015468.1:c.105+186del XP_016870957.1:n.105+186del
XR_001746995.2:n.1749+186del
XR_001746996.1:n.468+186del
XR_242691.5:n.1749+186del
NM_001173484.2:c.357+64900del NP_001166955.1:n.357+64900del
NM_001377322.1:c.357+64900del NP_001364251.1:n.357+64900del
NM_001377323.1:c.309+64900del NP_001364252.1:n.309+64900del
NM_001377324.1:c.300+64900del NP_001364253.1:n.300+64900del
NM_001377325.1:c.291+64900del NP_001364254.1:n.291+64900del
NM_001377326.1:c.249+64900del NP_001364255.1:n.249+64900del
NM_001377327.1:c.249+64900del NP_001364256.1:n.249+64900del
NM_001377328.1:c.249+64900del NP_001364257.1:n.249+64900del
NM_006393.3:c.153+186del MANE Select NP_006384.1:n.153+186del