Canonical Allele Identifier: CA662812750
Gene: NEBL HGNC NCBI

Linked Data

dbSNP Id: rs1222022245

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.21147320del , CM000672.2:g.21147320del GRCh38
NC_000010.10:g.21436249del , CM000672.1:g.21436249del GRCh37
NC_000010.9:g.21476255del NCBI36
NG_017092.1:g.31871del , LRG_411:g.31871del

Transcript Alleles

HGVS Amino-acid Change
ENST00000675700.1:n.187+25066del
ENST00000675702.1:n.443+25066del
ENST00000675747.1:n.224+25066del
ENST00000417816.2:c.164+25066del ENSP00000393896.2:n.164+25066del
NM_001173484.1:c.164+25066del NP_001166955.1:n.164+25066del
NM_213569.2:c.164+25066del , LRG_411t1:c.164+25066del NP_998734.1:n.164+25066del
NM_001173484.2:c.164+25066del NP_001166955.1:n.164+25066del
NM_001377322.1:c.164+25066del NP_001364251.1:n.164+25066del
NM_001377323.1:c.116+25066del NP_001364252.1:n.116+25066del
NM_001377324.1:c.107+25066del NP_001364253.1:n.107+25066del
NM_001377325.1:c.98+25066del NP_001364254.1:n.98+25066del
NM_001377326.1:c.56+25066del NP_001364255.1:n.56+25066del
NM_001377327.1:c.56+25066del NP_001364256.1:n.56+25066del
NM_001377328.1:c.56+25066del NP_001364257.1:n.56+25066del