Canonical Allele Identifier: CA16041212
Gene: NBN HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370213
ClinVar RCV Id: RCV000410234
dbSNP Id: rs1057516320

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89981430G>A , CM000670.2:g.89981430G>A GRCh38
NC_000008.10:g.90993658G>A , CM000670.1:g.90993658G>A GRCh37
NC_000008.9:g.91062834G>A NCBI36
NG_008860.1:g.8242C>T , LRG_158:g.8242C>T

Transcript Alleles

HGVS Amino-acid change
NM_001024688.2:c.19C>T VV NP_001019859.1:p.Arg7Ter
NM_002485.4:c.265C>T , LRG_158t1:c.265C>T NP_002476.2:p.Arg89Ter
XM_011517044.1:c.241C>T XP_011515346.1:p.Arg81Ter
XM_011517045.1:c.19C>T XP_011515347.1:p.Arg7Ter
XM_011517046.1:c.265C>T XP_011515348.1:p.Arg89Ter
XR_928335.1:n.402C>T
XM_017013460.1:c.-705C>T XP_016868949.1:p.=
XM_017013462.2:c.-511C>T XP_016868951.1:p.=
XM_024447163.1:c.19C>T XP_024302931.1:p.Arg7Ter
XM_024447164.1:c.19C>T XP_024302932.1:p.Arg7Ter
XM_024447165.1:c.-705C>T XP_024302933.1:p.=
ENST00000265433.7:c.265C>T ENSP00000265433.3:p.Arg89Ter
ENST00000396252.6:c.*138C>T ENSP00000379551.2:p.=
ENST00000409330.5:c.19C>T ENSP00000386924.1:p.Arg7Ter
ENST00000517337.1:c.19C>T ENSP00000429971.1:p.Arg7Ter
ENST00000517772.5:c.19C>T ENSP00000428717.1:p.Arg7Ter
ENST00000519426.5:c.265C>T ENSP00000430983.1:p.Arg89Ter
ENST00000523444.1:c.*138C>T ENSP00000428252.1:p.=