Canonical Allele Identifier: CA177441
Gene: NEBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.20852537G>C , CM000672.2:g.20852537G>C GRCh38
NC_000010.10:g.21141466G>C , CM000672.1:g.21141466G>C GRCh37
NC_000010.9:g.21181472G>C NCBI36
NG_017092.1:g.326651C>G , LRG_411:g.326651C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000377122.9:c.1008+8C>G MANE Select ENSP00000366326.4:n.1008+8C>G
ENST00000675114.1:n.566-39597C>G
ENST00000675700.1:n.381-39597C>G
ENST00000675702.1:n.637-39597C>G
ENST00000675747.1:n.3370+8C>G
ENST00000377122.8:c.1008+8C>G ENSP00000366326.4:n.1008+8C>G
ENST00000417816.2:c.358-39597C>G ENSP00000393896.2:n.358-39597C>G
NM_001173484.1:c.358-39597C>G NP_001166955.1:n.358-39597C>G
NM_006393.2:c.1008+8C>G , LRG_411t2:c.1008+8C>G NP_006384.1:n.1008+8C>G
NM_213569.2:c.358-39597C>G , LRG_411t1:c.358-39597C>G NP_998734.1:n.358-39597C>G
XM_005252342.3:c.906+8C>G XP_005252399.1:n.906+8C>G
XM_005252343.3:c.1008+8C>G XP_005252400.1:n.1008+8C>G
XM_005252344.3:c.1008+8C>G XP_005252401.1:n.1008+8C>G
XM_011519290.1:c.960+8C>G XP_011517592.1:n.960+8C>G
XM_011519291.1:c.960+8C>G XP_011517593.1:n.960+8C>G
XR_242691.3:n.1120+8C>G
XR_930736.1:n.438-479G>C
XR_930737.1:n.438-479G>C
XR_930738.1:n.438-479G>C
XR_930739.1:n.437+4011G>C
XR_930740.1:n.332-479G>C
XM_005252342.5:c.906+8C>G XP_005252399.1:n.906+8C>G
XM_005252343.5:c.1008+8C>G XP_005252400.1:n.1008+8C>G
XM_005252344.5:c.1008+8C>G XP_005252401.1:n.1008+8C>G
XM_011519291.2:c.960+8C>G XP_011517593.1:n.960+8C>G
XM_017015468.1:c.960+8C>G XP_016870957.1:n.960+8C>G
XR_001746995.2:n.2604+8C>G
XR_001746996.1:n.1323+8C>G
XR_001747385.2:n.438-479G>C
XR_001747386.2:n.438-479G>C
XR_242691.5:n.2604+8C>G
XR_930736.3:n.438-479G>C
XR_930737.3:n.438-479G>C
XR_930739.3:n.437+4011G>C
XR_930740.3:n.332-479G>C
NM_001173484.2:c.358-39597C>G NP_001166955.1:n.358-39597C>G
NM_001377322.1:c.358-39597C>G NP_001364251.1:n.358-39597C>G
NM_001377323.1:c.310-39597C>G NP_001364252.1:n.310-39597C>G
NM_001377324.1:c.301-39597C>G NP_001364253.1:n.301-39597C>G
NM_001377325.1:c.292-39597C>G NP_001364254.1:n.292-39597C>G
NM_001377326.1:c.250-39597C>G NP_001364255.1:n.250-39597C>G
NM_001377327.1:c.250-39597C>G NP_001364256.1:n.250-39597C>G
NM_001377328.1:c.250-39597C>G NP_001364257.1:n.250-39597C>G
NM_006393.3:c.1008+8C>G MANE Select NP_006384.1:n.1008+8C>G