Canonical Allele Identifier: CA2573053058

Gene: NBN

Linked Data

• dbSNP Id: rs2129702927

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953615del , CM000670.2:g.89953615del	GRCh38
NC_000008.10:g.90965843del , CM000670.1:g.90965843del	GRCh37
NC_000008.9:g.91035019del	NCBI36
NG_008860.1:g.36057del , LRG_158:g.36057del

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.2776del
ENST00000517337.2:c.1228del	ENSP00000429971.2:p.Gln410LysfsTer?
ENST00000523444.2:c.1228del	ENSP00000428252.2:p.Gln410LysfsTer?
ENST00000697292.1:c.1474del	ENSP00000513229.1:p.Gln492LysfsTer?
ENST00000697293.1:c.1474del	ENSP00000513230.1:p.Gln492LysfsTer?
ENST00000697294.1:c.*1085del	ENSP00000513231.1:n.*1085del
ENST00000697295.1:c.*783del	ENSP00000513232.1:n.*783del
ENST00000697296.1:c.*1142del	ENSP00000513233.1:n.*1142del
ENST00000697297.1:n.3259del
ENST00000697298.1:c.1228del	ENSP00000513234.1:p.Gln410LysfsTer?
ENST00000697299.1:c.1228del	ENSP00000513235.1:p.Gln410LysfsTer?
ENST00000697300.1:c.*1078del	ENSP00000513236.1:n.*1078del
ENST00000697301.1:c.*995del	ENSP00000513237.1:n.*995del
ENST00000697302.1:c.*995del	ENSP00000513238.1:n.*995del
ENST00000697303.1:c.*1078del	ENSP00000513239.1:n.*1078del
ENST00000697304.1:c.1162del	ENSP00000513240.1:p.Gln388LysfsTer?
ENST00000697306.1:c.*474del	ENSP00000513241.1:n.*474del
ENST00000697307.1:c.1474del	ENSP00000513242.1:p.Gln492LysfsTer?
ENST00000697308.1:c.1474del	ENSP00000513243.1:p.Gln492LysfsTer?
ENST00000697309.1:c.1474del	ENSP00000513244.1:p.Gln492LysfsTer?
ENST00000697310.1:c.1474del	ENSP00000513245.1:p.Gln492LysfsTer?
ENST00000697311.1:c.1474del	ENSP00000513246.1:p.Gln492LysfsTer?
ENST00000697312.1:c.*872del	ENSP00000513247.1:n.*872del
ENST00000697313.1:n.2687+16749del
ENST00000697314.1:n.3265del
ENST00000697315.1:c.1474del	ENSP00000513248.1:p.Gln492LysfsTer?
ENST00000697316.1:n.1595del
ENST00000697317.1:n.1584del
ENST00000697318.1:n.1586del
ENST00000265433.8:c.1474del MANE Select	ENSP00000265433.4:p.Gln492LysfsTer?
ENST00000265433.7:c.1474del	ENSP00000265433.3:p.Gln492LysfsTer?
ENST00000396252.6:c.*1347del	ENSP00000379551.2:n.*1347del
ENST00000409330.5:c.1228del	ENSP00000386924.1:p.Gln410LysfsTer?
NM_001024688.2:c.1228del	NP_001019859.1:p.Gln410LysfsTer?
NM_002485.4:c.1474del , LRG_158t1:c.1474del	NP_002476.2:p.Gln492LysfsTer?
XM_011517044.1:c.1450del	XP_011515346.1:p.Gln484LysfsTer?
XM_011517045.1:c.1228del	XP_011515347.1:p.Gln410LysfsTer?
XR_928335.1:n.1613del
XM_017013460.1:c.595del	XP_016868949.1:p.Gln199LysfsTer?
XM_017013462.2:c.595del	XP_016868951.1:p.Gln199LysfsTer?
XM_024447163.1:c.1228del	XP_024302931.1:p.Gln410LysfsTer?
XM_024447164.1:c.1228del	XP_024302932.1:p.Gln410LysfsTer?
XM_024447165.1:c.595del	XP_024302933.1:p.Gln199LysfsTer?
NM_002485.5:c.1474del MANE Select	NP_002476.2:p.Gln492LysfsTer?
NM_001024688.3:c.1228del	NP_001019859.1:p.Gln410LysfsTer?