Canonical Allele Identifier: CA16612389
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 411783
ClinVar RCV Id: RCV000458518
dbSNP Id: rs1060503485

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89984538del , CM000670.2:g.89984538del GRCh38
NC_000008.10:g.90996766del , CM000670.1:g.90996766del GRCh37
NC_000008.9:g.91065942del NCBI36
NG_008860.1:g.5136del , LRG_158:g.5136del

Transcript Alleles

HGVS Amino-acid change
ENST00000265433.8:c.26del MANE Select ENSP00000265433.4:p.Gly9AlafsTer11
ENST00000265433.7:c.26del ENSP00000265433.3:p.Gly9AlafsTer11
ENST00000396252.6:c.26del ENSP00000379551.2:p.Gly9AlafsTer11
ENST00000494804.1:n.130del
ENST00000519426.5:c.26del ENSP00000430983.1:p.Gly9AlafsTer11
ENST00000523444.1:c.26del ENSP00000428252.1:p.Gly9AlafsTer11
NM_001024688.2:c.-271del NP_001019859.1:p.=
NM_002485.4:c.26del , LRG_158t1:c.26del NP_002476.2:p.Gly9AlafsTer11
XM_011517046.1:c.26del XP_011515348.1:p.Gly9AlafsTer11
XR_928335.1:n.163del
XM_017013460.1:c.-994del XP_016868949.1:p.=
XM_017013462.2:c.-800del XP_016868951.1:p.=
XM_024447165.1:c.-944del XP_024302933.1:p.=
NM_002485.5:c.26del MANE Select NP_002476.2:p.Gly9AlafsTer11
NM_001024688.3:c.-271del NP_001019859.1:p.=