Canonical Allele Identifier: CA16041204
Gene: NBN HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370663
dbSNP Id: rs1057516668

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89946237del , CM000670.2:g.89946237del GRCh38
NC_000008.10:g.90958465del , CM000670.1:g.90958465del GRCh37
NC_000008.9:g.91027641del NCBI36
NG_008860.1:g.43436del , LRG_158:g.43436del

Transcript Alleles

HGVS Amino-acid change
NM_001024688.2:c.1728del VV NP_001019859.1:p.Glu576AspfsTer6
NM_002485.4:c.1974del , LRG_158t1:c.1974del NP_002476.2:p.Glu658AspfsTer6
XM_011517044.1:c.1950del XP_011515346.1:p.Glu650AspfsTer6
XM_011517045.1:c.1728del XP_011515347.1:p.Glu576AspfsTer6
XM_017013460.1:c.1095del XP_016868949.1:p.Glu365AspfsTer6
XM_017013462.2:c.1095del XP_016868951.1:p.Glu365AspfsTer6
XM_024447163.1:c.1728del XP_024302931.1:p.Glu576AspfsTer6
XM_024447164.1:c.1728del XP_024302932.1:p.Glu576AspfsTer6
XM_024447165.1:c.1095del XP_024302933.1:p.Glu365AspfsTer6
ENST00000265433.7:c.1974del ENSP00000265433.3:p.Glu658AspfsTer6
ENST00000396252.6:c.*1847del ENSP00000379551.2:p.=
ENST00000409330.5:c.1728del ENSP00000386924.1:p.Glu576AspfsTer6
ENST00000520325.1:n.390del
ENST00000613033.1:n.180+1588del ENSP00000484487.1:p.=