Canonical Allele Identifier: CA254009
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 6940
dbSNP Id: rs587776650

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89971217_89971221del , CM000670.2:g.89971217_89971221del GRCh38
NC_000008.10:g.90983445_90983449del , CM000670.1:g.90983445_90983449del GRCh37
NC_000008.9:g.91052621_91052625del NCBI36
NG_008860.1:g.18454_18458del , LRG_158:g.18454_18458del

Transcript Alleles

HGVS Amino-acid change
ENST00000265433.8:c.657_661del MANE Select ENSP00000265433.4:p.Lys219AsnfsTer16
ENST00000265433.7:c.657_661del ENSP00000265433.3:p.Lys219AsnfsTer16
ENST00000396252.6:c.*530_*534del ENSP00000379551.2:p.=
ENST00000409330.5:c.411_415del ENSP00000386924.1:p.Lys137AsnfsTer16
ENST00000517772.5:c.411_415del ENSP00000428717.1:p.Lys137AsnfsTer16
ENST00000519426.5:c.393_397del ENSP00000430983.1:p.Lys131AsnfsTer16
NM_001024688.2:c.411_415del NP_001019859.1:p.Lys137AsnfsTer16
NM_002485.4:c.657_661del , LRG_158t1:c.657_661del NP_002476.2:p.Lys219AsnfsTer16
XM_011517044.1:c.633_637del XP_011515346.1:p.Lys211AsnfsTer16
XM_011517045.1:c.411_415del XP_011515347.1:p.Lys137AsnfsTer16
XM_011517046.1:c.657_661del XP_011515348.1:p.Lys219AsnfsTer16
XR_928335.1:n.794_798del
XM_017013460.1:c.-223_-219del XP_016868949.1:p.=
XM_017013462.2:c.-223_-219del XP_016868951.1:p.=
XM_024447163.1:c.411_415del XP_024302931.1:p.Lys137AsnfsTer16
XM_024447164.1:c.411_415del XP_024302932.1:p.Lys137AsnfsTer16
XM_024447165.1:c.-223_-219del XP_024302933.1:p.=
NM_002485.5:c.657_661del MANE Select NP_002476.2:p.Lys219AsnfsTer16
NM_001024688.3:c.411_415del NP_001019859.1:p.Lys137AsnfsTer16