Canonical Allele Identifier: CA16041213
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 370312
ClinVar RCV Id: RCV000412330
dbSNP Id: rs1057516392

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89981519dup , CM000670.2:g.89981519dup GRCh38
NC_000008.10:g.90993747dup , CM000670.1:g.90993747dup GRCh37
NC_000008.9:g.91062923dup NCBI36
NG_008860.1:g.8155dup , LRG_158:g.8155dup

Transcript Alleles

HGVS Amino-acid change
ENST00000265433.8:c.178dup MANE Select ENSP00000265433.4:p.Thr60AsnfsTer3
ENST00000265433.7:c.178dup ENSP00000265433.3:p.Thr60AsnfsTer3
ENST00000396252.6:c.*51dup ENSP00000379551.2:p.=
ENST00000409330.5:c.-69dup ENSP00000386924.1:p.=
ENST00000517337.1:c.-69dup ENSP00000429971.1:p.=
ENST00000517772.5:c.-69dup ENSP00000428717.1:p.=
ENST00000519426.5:c.178dup ENSP00000430983.1:p.Thr60AsnfsTer3
ENST00000523444.1:c.*51dup ENSP00000428252.1:p.=
NM_001024688.2:c.-69dup NP_001019859.1:p.=
NM_002485.4:c.178dup , LRG_158t1:c.178dup NP_002476.2:p.Thr60AsnfsTer3
XM_011517044.1:c.154dup XP_011515346.1:p.Thr52AsnfsTer3
XM_011517045.1:c.-69dup XP_011515347.1:p.=
XM_011517046.1:c.178dup XP_011515348.1:p.Thr60AsnfsTer3
XR_928335.1:n.315dup
XM_017013460.1:c.-792dup XP_016868949.1:p.=
XM_017013462.2:c.-598dup XP_016868951.1:p.=
XM_024447163.1:c.-69dup XP_024302931.1:p.=
XM_024447164.1:c.-69dup XP_024302932.1:p.=
XM_024447165.1:c.-792dup XP_024302933.1:p.=
NM_002485.5:c.178dup MANE Select NP_002476.2:p.Thr60AsnfsTer3
NM_001024688.3:c.-69dup NP_001019859.1:p.=