Canonical Allele Identifier: CA16041201
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 371189
ClinVar RCV Id: RCV000410827
dbSNP Id: rs1057517075

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89946138del , CM000670.2:g.89946138del GRCh38
NC_000008.10:g.90958366del , CM000670.1:g.90958366del GRCh37
NC_000008.9:g.91027542del NCBI36
NG_008860.1:g.43534del , LRG_158:g.43534del

Transcript Alleles

HGVS Amino-acid change
ENST00000265433.8:c.2070+2del MANE Select ENSP00000265433.4:p.=
ENST00000265433.7:c.2070+2del ENSP00000265433.3:p.=
ENST00000396252.6:c.*1943+2del ENSP00000379551.2:p.=
ENST00000409330.5:c.1824+2del ENSP00000386924.1:p.=
ENST00000520325.1:n.486+2del
ENST00000613033.1:n.180+1686del ENSP00000484487.1:p.=
NM_001024688.2:c.1824+2del NP_001019859.1:p.=
NM_002485.4:c.2070+2del , LRG_158t1:c.2070+2del NP_002476.2:p.=
XM_011517044.1:c.2046+2del XP_011515346.1:p.=
XM_011517045.1:c.1824+2del XP_011515347.1:p.=
XM_017013460.1:c.1191+2del XP_016868949.1:p.=
XM_017013462.2:c.1191+2del XP_016868951.1:p.=
XM_024447163.1:c.1824+2del XP_024302931.1:p.=
XM_024447164.1:c.1824+2del XP_024302932.1:p.=
XM_024447165.1:c.1191+2del XP_024302933.1:p.=
NM_002485.5:c.2070+2del MANE Select NP_002476.2:p.=
NM_001024688.3:c.1824+2del NP_001019859.1:p.=