Canonical Allele Identifier: CA16041215
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 370215

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89982721C>T , CM000670.2:g.89982721C>T GRCh38
NC_000008.10:g.90994949C>T , CM000670.1:g.90994949C>T GRCh37
NC_000008.9:g.91064125C>T NCBI36
NG_008860.1:g.6951G>A , LRG_158:g.6951G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000265433.8:c.171+1G>A MANE Select ENSP00000265433.4:p.=
ENST00000265433.7:c.171+1G>A ENSP00000265433.3:p.=
ENST00000396252.6:c.171+1G>A ENSP00000379551.2:p.=
ENST00000409330.5:c.-76+1G>A ENSP00000386924.1:p.=
ENST00000494804.1:n.276G>A
ENST00000517337.1:c.-126+1G>A ENSP00000429971.1:p.=
ENST00000519426.5:c.171+1G>A ENSP00000430983.1:p.=
ENST00000523444.1:c.171+1G>A ENSP00000428252.1:p.=
NM_001024688.2:c.-126+1G>A NP_001019859.1:p.=
NM_002485.4:c.171+1G>A , LRG_158t1:c.171+1G>A NP_002476.2:p.=
XM_011517044.1:c.147+1G>A XP_011515346.1:p.=
XM_011517045.1:c.-126+1G>A XP_011515347.1:p.=
XM_011517046.1:c.171+1G>A XP_011515348.1:p.=
XR_928335.1:n.308+1G>A
XM_017013460.1:c.-849+1G>A XP_016868949.1:p.=
XM_017013462.2:c.-655+1G>A XP_016868951.1:p.=
XM_024447163.1:c.-76+1G>A XP_024302931.1:p.=
XM_024447165.1:c.-799+1G>A XP_024302933.1:p.=
NM_002485.5:c.171+1G>A MANE Select NP_002476.2:p.=
NM_001024688.3:c.-126+1G>A NP_001019859.1:p.=