Canonical Allele Identifier: CA16041214
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 370793
dbSNP Id: rs1057516772

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89982722_89982733del , CM000670.2:g.89982722_89982733del GRCh38
NC_000008.10:g.90994950_90994961del , CM000670.1:g.90994950_90994961del GRCh37
NC_000008.9:g.91064126_91064137del NCBI36
NG_008860.1:g.6942_6953del , LRG_158:g.6942_6953del

Transcript Alleles

HGVS Amino-acid change
ENST00000265433.8:c.163_171+3del
ENST00000265433.7:c.163_171+3del
ENST00000396252.6:c.163_171+3del
ENST00000409330.5:c.-84_-76+3del
ENST00000494804.1:n.267_278del
ENST00000517337.1:c.-134_-126+3del
ENST00000519426.5:c.163_171+3del
ENST00000523444.1:c.163_171+3del
NM_001024688.2:c.-134_-126+3del
NM_002485.4:c.163_171+3del , LRG_158t1:c.163_171+3del
XM_011517044.1:c.139_147+3del
XM_011517045.1:c.-134_-126+3del
XM_011517046.1:c.163_171+3del
XR_928335.1:n.300_308+3del
XM_017013460.1:c.-857_-849+3del
XM_017013462.2:c.-663_-655+3del
XM_024447163.1:c.-84_-76+3del
XM_024447165.1:c.-807_-799+3del
NM_002485.5:c.163_171+3del
NM_001024688.3:c.-134_-126+3del