Canonical Allele Identifier: CA16041211
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 370812
ClinVar RCV Id: RCV000409476
dbSNP Id: rs1057516787

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89978276del , CM000670.2:g.89978276del GRCh38
NC_000008.10:g.90990504del , CM000670.1:g.90990504del GRCh37
NC_000008.9:g.91059680del NCBI36
NG_008860.1:g.11399del , LRG_158:g.11399del

Transcript Alleles

HGVS Amino-acid change
ENST00000265433.8:c.531del MANE Select ENSP00000265433.4:p.Phe177LeufsTer5
ENST00000265433.7:c.531del ENSP00000265433.3:p.Phe177LeufsTer5
ENST00000396252.6:c.*404del ENSP00000379551.2:p.=
ENST00000409330.5:c.285del ENSP00000386924.1:p.Phe95LeufsTer5
ENST00000517772.5:c.285del ENSP00000428717.1:p.Phe95LeufsTer5
ENST00000519426.5:c.320+3102del ENSP00000430983.1:p.=
NM_001024688.2:c.285del NP_001019859.1:p.Phe95LeufsTer5
NM_002485.4:c.531del , LRG_158t1:c.531del NP_002476.2:p.Phe177LeufsTer5
XM_011517044.1:c.507del XP_011515346.1:p.Phe169LeufsTer5
XM_011517045.1:c.285del XP_011515347.1:p.Phe95LeufsTer5
XM_011517046.1:c.531del XP_011515348.1:p.Phe177LeufsTer5
XR_928335.1:n.668del
XM_017013460.1:c.-349del XP_016868949.1:p.=
XM_017013462.2:c.-296+2461del XP_016868951.1:p.=
XM_024447163.1:c.285del XP_024302931.1:p.Phe95LeufsTer5
XM_024447164.1:c.285del XP_024302932.1:p.Phe95LeufsTer5
XM_024447165.1:c.-349del XP_024302933.1:p.=
NM_002485.5:c.531del MANE Select NP_002476.2:p.Phe177LeufsTer5
NM_001024688.3:c.285del NP_001019859.1:p.Phe95LeufsTer5