Canonical Allele Identifier: CA2687854143

Gene: NBN

Linked Data

• gnomAD v4: 8-89947724-GGAAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89947727_89947730del , CM000670.2:g.89947727_89947730del	GRCh38
NC_000008.10:g.90959955_90959958del , CM000670.1:g.90959955_90959958del	GRCh37
NC_000008.9:g.91029131_91029134del	NCBI36
NG_008860.1:g.41944_41947del , LRG_158:g.41944_41947del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3216+96_3216+99del
ENST00000517337.2:c.1668+96_1668+99del	ENSP00000429971.2:n.1668+96_1668+99del
ENST00000523444.2:c.1668+96_1668+99del	ENSP00000428252.2:n.1668+96_1668+99del
ENST00000697292.1:c.1914+96_1914+99del	ENSP00000513229.1:n.1914+96_1914+99del
ENST00000697293.1:c.1914+96_1914+99del	ENSP00000513230.1:n.1914+96_1914+99del
ENST00000697294.1:c.*1525+96_*1525+99del	ENSP00000513231.1:n.*1525+96_*1525+99del
ENST00000697295.1:c.*1223+96_*1223+99del	ENSP00000513232.1:n.*1223+96_*1223+99del
ENST00000697296.1:c.*1582+96_*1582+99del	ENSP00000513233.1:n.*1582+96_*1582+99del
ENST00000697297.1:n.3699+96_3699+99del
ENST00000697298.1:c.1668+96_1668+99del	ENSP00000513234.1:n.1668+96_1668+99del
ENST00000697299.1:c.1668+96_1668+99del	ENSP00000513235.1:n.1668+96_1668+99del
ENST00000697300.1:c.*1518+96_*1518+99del	ENSP00000513236.1:n.*1518+96_*1518+99del
ENST00000697301.1:c.*1435+96_*1435+99del	ENSP00000513237.1:n.*1435+96_*1435+99del
ENST00000697302.1:c.*1435+96_*1435+99del	ENSP00000513238.1:n.*1435+96_*1435+99del
ENST00000697303.1:c.*1518+96_*1518+99del	ENSP00000513239.1:n.*1518+96_*1518+99del
ENST00000697304.1:c.1602+96_1602+99del	ENSP00000513240.1:n.1602+96_1602+99del
ENST00000697306.1:c.*1033_*1036del	ENSP00000513241.1:n.*1033_*1036del
ENST00000697307.1:c.1846-4362_1846-4359del	ENSP00000513242.1:n.1846-4362_1846-4359del
ENST00000697308.1:c.1846-1433_1846-1430del	ENSP00000513243.1:n.1846-1433_1846-1430del
ENST00000697309.1:c.1914+96_1914+99del	ENSP00000513244.1:n.1914+96_1914+99del
ENST00000697310.1:c.1914+96_1914+99del	ENSP00000513245.1:n.1914+96_1914+99del
ENST00000697311.1:c.1914+96_1914+99del	ENSP00000513246.1:n.1914+96_1914+99del
ENST00000697312.1:c.*1312+96_*1312+99del	ENSP00000513247.1:n.*1312+96_*1312+99del
ENST00000697313.1:n.2688-12116_2688-12113del
ENST00000697314.1:n.3636+5516_3636+5519del
ENST00000697315.1:c.1914+96_1914+99del	ENSP00000513248.1:n.1914+96_1914+99del
ENST00000697316.1:n.2035+96_2035+99del
ENST00000697317.1:n.2005+115_2005+118del
ENST00000265433.8:c.1914+96_1914+99del MANE Select	ENSP00000265433.4:n.1914+96_1914+99del
ENST00000265433.7:c.1914+96_1914+99del	ENSP00000265433.3:n.1914+96_1914+99del
ENST00000396252.6:c.*1787+96_*1787+99del	ENSP00000379551.2:n.*1787+96_*1787+99del
ENST00000409330.5:c.1668+96_1668+99del	ENSP00000386924.1:n.1668+96_1668+99del
ENST00000613033.1:c.180+96_180+99del	ENSP00000484487.1:n.180+96_180+99del
NM_001024688.2:c.1668+96_1668+99del	NP_001019859.1:n.1668+96_1668+99del
NM_002485.4:c.1914+96_1914+99del , LRG_158t1:c.1914+96_1914+99del	NP_002476.2:n.1914+96_1914+99del
XM_011517044.1:c.1890+96_1890+99del	XP_011515346.1:n.1890+96_1890+99del
XM_011517045.1:c.1668+96_1668+99del	XP_011515347.1:n.1668+96_1668+99del
XR_928335.1:n.2053+96_2053+99del
XM_017013460.1:c.1035+96_1035+99del	XP_016868949.1:n.1035+96_1035+99del
XM_017013462.2:c.1035+96_1035+99del	XP_016868951.1:n.1035+96_1035+99del
XM_024447163.1:c.1668+96_1668+99del	XP_024302931.1:n.1668+96_1668+99del
XM_024447164.1:c.1668+96_1668+99del	XP_024302932.1:n.1668+96_1668+99del
XM_024447165.1:c.1035+96_1035+99del	XP_024302933.1:n.1035+96_1035+99del
NM_002485.5:c.1914+96_1914+99del MANE Select	NP_002476.2:n.1914+96_1914+99del
NM_001024688.3:c.1668+96_1668+99del	NP_001019859.1:n.1668+96_1668+99del