Canonical Allele Identifier: CA2687854207

Gene: NBN

Linked Data

• gnomAD v4: 8-89947884-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89947888del , CM000670.2:g.89947888del	GRCh38
NC_000008.10:g.90960116del , CM000670.1:g.90960116del	GRCh37
NC_000008.9:g.91029292del	NCBI36
NG_008860.1:g.41787del , LRG_158:g.41787del

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.3155del
ENST00000517337.2:c.1607del	ENSP00000429971.2:p.Asn536MetfsTer?
ENST00000523444.2:c.1607del	ENSP00000428252.2:p.Asn536MetfsTer?
ENST00000697292.1:c.1853del	ENSP00000513229.1:p.Asn618MetfsTer?
ENST00000697293.1:c.1853del	ENSP00000513230.1:p.Asn618MetfsTer?
ENST00000697294.1:c.*1464del	ENSP00000513231.1:n.*1464del
ENST00000697295.1:c.*1162del	ENSP00000513232.1:n.*1162del
ENST00000697296.1:c.*1521del	ENSP00000513233.1:n.*1521del
ENST00000697297.1:n.3638del
ENST00000697298.1:c.1607del	ENSP00000513234.1:p.Asn536MetfsTer?
ENST00000697299.1:c.1607del	ENSP00000513235.1:p.Asn536MetfsTer?
ENST00000697300.1:c.*1457del	ENSP00000513236.1:n.*1457del
ENST00000697301.1:c.*1374del	ENSP00000513237.1:n.*1374del
ENST00000697302.1:c.*1374del	ENSP00000513238.1:n.*1374del
ENST00000697303.1:c.*1457del	ENSP00000513239.1:n.*1457del
ENST00000697304.1:c.1541del	ENSP00000513240.1:p.Asn514MetfsTer?
ENST00000697306.1:c.*876del	ENSP00000513241.1:n.*876del
ENST00000697307.1:c.1846-4519del	ENSP00000513242.1:n.1846-4519del
ENST00000697308.1:c.1846-1590del	ENSP00000513243.1:n.1846-1590del
ENST00000697309.1:c.1853del	ENSP00000513244.1:p.Asn618MetfsTer?
ENST00000697310.1:c.1853del	ENSP00000513245.1:p.Asn618MetfsTer?
ENST00000697311.1:c.1853del	ENSP00000513246.1:p.Asn618MetfsTer?
ENST00000697312.1:c.*1251del	ENSP00000513247.1:n.*1251del
ENST00000697313.1:n.2688-12273del
ENST00000697314.1:n.3636+5359del
ENST00000697315.1:c.1853del	ENSP00000513248.1:p.Asn618MetfsTer?
ENST00000697316.1:n.1974del
ENST00000697317.1:n.1963del
ENST00000265433.8:c.1853del MANE Select	ENSP00000265433.4:p.Asn618MetfsTer?
ENST00000265433.7:c.1853del	ENSP00000265433.3:p.Asn618MetfsTer?
ENST00000396252.6:c.*1726del	ENSP00000379551.2:n.*1726del
ENST00000409330.5:c.1607del	ENSP00000386924.1:p.Asn536MetfsTer?
ENST00000613033.1:c.119del	ENSP00000484487.1:p.Asn40MetfsTer?
NM_001024688.2:c.1607del	NP_001019859.1:p.Asn536MetfsTer?
NM_002485.4:c.1853del , LRG_158t1:c.1853del	NP_002476.2:p.Asn618MetfsTer?
XM_011517044.1:c.1829del	XP_011515346.1:p.Asn610MetfsTer?
XM_011517045.1:c.1607del	XP_011515347.1:p.Asn536MetfsTer?
XR_928335.1:n.1992del
XM_017013460.1:c.974del	XP_016868949.1:p.Asn325MetfsTer?
XM_017013462.2:c.974del	XP_016868951.1:p.Asn325MetfsTer?
XM_024447163.1:c.1607del	XP_024302931.1:p.Asn536MetfsTer?
XM_024447164.1:c.1607del	XP_024302932.1:p.Asn536MetfsTer?
XM_024447165.1:c.974del	XP_024302933.1:p.Asn325MetfsTer?
NM_002485.5:c.1853del MANE Select	NP_002476.2:p.Asn618MetfsTer?
NM_001024688.3:c.1607del	NP_001019859.1:p.Asn536MetfsTer?