Canonical Allele Identifier: CA16041203
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 370899
ClinVar RCV Id: RCV000410892
dbSNP Id: rs1057516852

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89946211_89946212del , CM000670.2:g.89946211_89946212del GRCh38
NC_000008.10:g.90958439_90958440del , CM000670.1:g.90958439_90958440del GRCh37
NC_000008.9:g.91027615_91027616del NCBI36
NG_008860.1:g.43462_43463del , LRG_158:g.43462_43463del

Transcript Alleles

HGVS Amino-acid change
ENST00000265433.8:c.2000_2001del MANE Select ENSP00000265433.4:p.Ser667TyrfsTer10
ENST00000265433.7:c.2000_2001del ENSP00000265433.3:p.Ser667TyrfsTer10
ENST00000396252.6:c.*1873_*1874del ENSP00000379551.2:p.=
ENST00000409330.5:c.1754_1755del ENSP00000386924.1:p.Ser585TyrfsTer10
ENST00000520325.1:n.416_417del
ENST00000613033.1:n.180+1614_180+1615del ENSP00000484487.1:p.=
NM_001024688.2:c.1754_1755del NP_001019859.1:p.Ser585TyrfsTer10
NM_002485.4:c.2000_2001del , LRG_158t1:c.2000_2001del NP_002476.2:p.Ser667TyrfsTer10
XM_011517044.1:c.1976_1977del XP_011515346.1:p.Ser659TyrfsTer10
XM_011517045.1:c.1754_1755del XP_011515347.1:p.Ser585TyrfsTer10
XM_017013460.1:c.1121_1122del XP_016868949.1:p.Ser374TyrfsTer10
XM_017013462.2:c.1121_1122del XP_016868951.1:p.Ser374TyrfsTer10
XM_024447163.1:c.1754_1755del XP_024302931.1:p.Ser585TyrfsTer10
XM_024447164.1:c.1754_1755del XP_024302932.1:p.Ser585TyrfsTer10
XM_024447165.1:c.1121_1122del XP_024302933.1:p.Ser374TyrfsTer10
NM_002485.5:c.2000_2001del MANE Select NP_002476.2:p.Ser667TyrfsTer10
NM_001024688.3:c.1754_1755del NP_001019859.1:p.Ser585TyrfsTer10