Canonical Allele Identifier: CA856707392

Gene: NBN

Linked Data

• dbSNP Id: rs1489083407
• gnomAD v3: 8-89947707-GAAGT-G
• gnomAD v4: 8-89947707-GAAGT-G
• MyVariant Identifiers: chr8:g.90959936_90959939del (hg19) ; chr8:g.89947708_89947711del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89947711_89947714del , CM000670.2:g.89947711_89947714del	GRCh38
NC_000008.10:g.90959939_90959942del , CM000670.1:g.90959939_90959942del	GRCh37
NC_000008.9:g.91029115_91029118del	NCBI36
NG_008860.1:g.41961_41964del , LRG_158:g.41961_41964del

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.3216+113_3216+116del
ENST00000517337.2:c.1668+113_1668+116del	ENSP00000429971.2:n.1668+113_1668+116del
ENST00000523444.2:c.1668+113_1668+116del	ENSP00000428252.2:n.1668+113_1668+116del
ENST00000697292.1:c.1914+113_1914+116del	ENSP00000513229.1:n.1914+113_1914+116del
ENST00000697293.1:c.1914+113_1914+116del	ENSP00000513230.1:n.1914+113_1914+116del
ENST00000697294.1:c.*1525+113_*1525+116del	ENSP00000513231.1:n.*1525+113_*1525+116del
ENST00000697295.1:c.*1223+113_*1223+116del	ENSP00000513232.1:n.*1223+113_*1223+116del
ENST00000697296.1:c.*1582+113_*1582+116del	ENSP00000513233.1:n.*1582+113_*1582+116del
ENST00000697297.1:n.3699+113_3699+116del
ENST00000697298.1:c.1668+113_1668+116del	ENSP00000513234.1:n.1668+113_1668+116del
ENST00000697299.1:c.1668+113_1668+116del	ENSP00000513235.1:n.1668+113_1668+116del
ENST00000697300.1:c.*1518+113_*1518+116del	ENSP00000513236.1:n.*1518+113_*1518+116del
ENST00000697301.1:c.*1435+113_*1435+116del	ENSP00000513237.1:n.*1435+113_*1435+116del
ENST00000697302.1:c.*1435+113_*1435+116del	ENSP00000513238.1:n.*1435+113_*1435+116del
ENST00000697303.1:c.*1518+113_*1518+116del	ENSP00000513239.1:n.*1518+113_*1518+116del
ENST00000697304.1:c.1602+113_1602+116del	ENSP00000513240.1:n.1602+113_1602+116del
ENST00000697306.1:c.*1050_*1053del	ENSP00000513241.1:n.*1050_*1053del
ENST00000697307.1:c.1846-4345_1846-4342del	ENSP00000513242.1:n.1846-4345_1846-4342del
ENST00000697308.1:c.1846-1416_1846-1413del	ENSP00000513243.1:n.1846-1416_1846-1413del
ENST00000697309.1:c.1914+113_1914+116del	ENSP00000513244.1:n.1914+113_1914+116del
ENST00000697310.1:c.1914+113_1914+116del	ENSP00000513245.1:n.1914+113_1914+116del
ENST00000697311.1:c.1914+113_1914+116del	ENSP00000513246.1:n.1914+113_1914+116del
ENST00000697312.1:c.*1312+113_*1312+116del	ENSP00000513247.1:n.*1312+113_*1312+116del
ENST00000697313.1:n.2688-12099_2688-12096del
ENST00000697314.1:n.3636+5533_3636+5536del
ENST00000697315.1:c.1914+113_1914+116del	ENSP00000513248.1:n.1914+113_1914+116del
ENST00000697316.1:n.2035+113_2035+116del
ENST00000697317.1:n.2005+132_2005+135del
ENST00000265433.8:c.1914+113_1914+116del MANE Select	ENSP00000265433.4:n.1914+113_1914+116del
ENST00000265433.7:c.1914+113_1914+116del	ENSP00000265433.3:n.1914+113_1914+116del
ENST00000396252.6:c.*1787+113_*1787+116del	ENSP00000379551.2:n.*1787+113_*1787+116del
ENST00000409330.5:c.1668+113_1668+116del	ENSP00000386924.1:n.1668+113_1668+116del
ENST00000613033.1:c.180+113_180+116del	ENSP00000484487.1:n.180+113_180+116del
NM_001024688.2:c.1668+113_1668+116del	NP_001019859.1:n.1668+113_1668+116del
NM_002485.4:c.1914+113_1914+116del , LRG_158t1:c.1914+113_1914+116del	NP_002476.2:n.1914+113_1914+116del
XM_011517044.1:c.1890+113_1890+116del	XP_011515346.1:n.1890+113_1890+116del
XM_011517045.1:c.1668+113_1668+116del	XP_011515347.1:n.1668+113_1668+116del
XR_928335.1:n.2053+113_2053+116del
XM_017013460.1:c.1035+113_1035+116del	XP_016868949.1:n.1035+113_1035+116del
XM_017013462.2:c.1035+113_1035+116del	XP_016868951.1:n.1035+113_1035+116del
XM_024447163.1:c.1668+113_1668+116del	XP_024302931.1:n.1668+113_1668+116del
XM_024447164.1:c.1668+113_1668+116del	XP_024302932.1:n.1668+113_1668+116del
XM_024447165.1:c.1035+113_1035+116del	XP_024302933.1:n.1035+113_1035+116del
NM_002485.5:c.1914+113_1914+116del MANE Select	NP_002476.2:n.1914+113_1914+116del
NM_001024688.3:c.1668+113_1668+116del	NP_001019859.1:n.1668+113_1668+116del