Canonical Allele Identifier: CA1139660639

Gene: NBN

Linked Data

• ClinVar Variation Id: 954667
• ClinVar RCV Id: RCV001227171
• dbSNP Id: rs1810270891

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89947879del , CM000670.2:g.89947879del	GRCh38
NC_000008.10:g.90960107del , CM000670.1:g.90960107del	GRCh37
NC_000008.9:g.91029283del	NCBI36
NG_008860.1:g.41794del , LRG_158:g.41794del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3162del
ENST00000517337.2:c.1614del	ENSP00000429971.2:p.Ile538MetfsTer?
ENST00000523444.2:c.1614del	ENSP00000428252.2:p.Ile538MetfsTer?
ENST00000697292.1:c.1860del	ENSP00000513229.1:p.Ile620MetfsTer?
ENST00000697293.1:c.1860del	ENSP00000513230.1:p.Ile620MetfsTer?
ENST00000697294.1:c.*1471del	ENSP00000513231.1:n.*1471del
ENST00000697295.1:c.*1169del	ENSP00000513232.1:n.*1169del
ENST00000697296.1:c.*1528del	ENSP00000513233.1:n.*1528del
ENST00000697297.1:n.3645del
ENST00000697298.1:c.1614del	ENSP00000513234.1:p.Ile538MetfsTer?
ENST00000697299.1:c.1614del	ENSP00000513235.1:p.Ile538MetfsTer?
ENST00000697300.1:c.*1464del	ENSP00000513236.1:n.*1464del
ENST00000697301.1:c.*1381del	ENSP00000513237.1:n.*1381del
ENST00000697302.1:c.*1381del	ENSP00000513238.1:n.*1381del
ENST00000697303.1:c.*1464del	ENSP00000513239.1:n.*1464del
ENST00000697304.1:c.1548del	ENSP00000513240.1:p.Ile516MetfsTer?
ENST00000697306.1:c.*883del	ENSP00000513241.1:n.*883del
ENST00000697307.1:c.1846-4512del	ENSP00000513242.1:n.1846-4512del
ENST00000697308.1:c.1846-1583del	ENSP00000513243.1:n.1846-1583del
ENST00000697309.1:c.1860del	ENSP00000513244.1:p.Ile620MetfsTer?
ENST00000697310.1:c.1860del	ENSP00000513245.1:p.Ile620MetfsTer?
ENST00000697311.1:c.1860del	ENSP00000513246.1:p.Ile620MetfsTer?
ENST00000697312.1:c.*1258del	ENSP00000513247.1:n.*1258del
ENST00000697313.1:n.2688-12266del
ENST00000697314.1:n.3636+5366del
ENST00000697315.1:c.1860del	ENSP00000513248.1:p.Ile620MetfsTer?
ENST00000697316.1:n.1981del
ENST00000697317.1:n.1970del
ENST00000265433.8:c.1860del MANE Select	ENSP00000265433.4:p.Ile620MetfsTer?
ENST00000265433.7:c.1860del	ENSP00000265433.3:p.Ile620MetfsTer?
ENST00000396252.6:c.*1733del	ENSP00000379551.2:n.*1733del
ENST00000409330.5:c.1614del	ENSP00000386924.1:p.Ile538MetfsTer?
ENST00000613033.1:c.126del	ENSP00000484487.1:p.Ile42MetfsTer?
NM_001024688.2:c.1614del	NP_001019859.1:p.Ile538MetfsTer?
NM_002485.4:c.1860del , LRG_158t1:c.1860del	NP_002476.2:p.Ile620MetfsTer?
XM_011517044.1:c.1836del	XP_011515346.1:p.Ile612MetfsTer?
XM_011517045.1:c.1614del	XP_011515347.1:p.Ile538MetfsTer?
XR_928335.1:n.1999del
XM_017013460.1:c.981del	XP_016868949.1:p.Ile327MetfsTer?
XM_017013462.2:c.981del	XP_016868951.1:p.Ile327MetfsTer?
XM_024447163.1:c.1614del	XP_024302931.1:p.Ile538MetfsTer?
XM_024447164.1:c.1614del	XP_024302932.1:p.Ile538MetfsTer?
XM_024447165.1:c.981del	XP_024302933.1:p.Ile327MetfsTer?
NM_002485.5:c.1860del MANE Select	NP_002476.2:p.Ile620MetfsTer?
NM_001024688.3:c.1614del	NP_001019859.1:p.Ile538MetfsTer?