Canonical Allele Identifier: CA2721338232
Gene: NEBL HGNC NCBI

Linked Data

dbSNP Id: rs2132117274

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.21147315_21147317del , CM000672.2:g.21147315_21147317del GRCh38
NC_000010.10:g.21436244_21436246del , CM000672.1:g.21436244_21436246del GRCh37
NC_000010.9:g.21476250_21476252del NCBI36
NG_017092.1:g.31876_31878del , LRG_411:g.31876_31878del

Transcript Alleles

HGVS Amino-acid Change
ENST00000675700.1:n.187+25071_187+25073del
ENST00000675702.1:n.443+25071_443+25073del
ENST00000675747.1:n.224+25071_224+25073del
ENST00000417816.2:c.164+25071_164+25073del ENSP00000393896.2:n.164+25071_164+25073del
NM_001173484.1:c.164+25071_164+25073del NP_001166955.1:n.164+25071_164+25073del
NM_213569.2:c.164+25071_164+25073del , LRG_411t1:c.164+25071_164+25073del NP_998734.1:n.164+25071_164+25073del
NM_001173484.2:c.164+25071_164+25073del NP_001166955.1:n.164+25071_164+25073del
NM_001377322.1:c.164+25071_164+25073del NP_001364251.1:n.164+25071_164+25073del
NM_001377323.1:c.116+25071_116+25073del NP_001364252.1:n.116+25071_116+25073del
NM_001377324.1:c.107+25071_107+25073del NP_001364253.1:n.107+25071_107+25073del
NM_001377325.1:c.98+25071_98+25073del NP_001364254.1:n.98+25071_98+25073del
NM_001377326.1:c.56+25071_56+25073del NP_001364255.1:n.56+25071_56+25073del
NM_001377327.1:c.56+25071_56+25073del NP_001364256.1:n.56+25071_56+25073del
NM_001377328.1:c.56+25071_56+25073del NP_001364257.1:n.56+25071_56+25073del