Canonical Allele Identifier: CA915663298

Gene: NBN

Linked Data

• dbSNP Id: rs1563515919
• gnomAD v2: 8-90959908-G-GATCA
• gnomAD v3: 8-89947680-G-GATCA
• gnomAD v4: 8-89947680-G-GATCA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89947684_89947687dup , CM000670.2:g.89947684_89947687dup	GRCh38
NC_000008.10:g.90959912_90959915dup , CM000670.1:g.90959912_90959915dup	GRCh37
NC_000008.9:g.91029088_91029091dup	NCBI36
NG_008860.1:g.41988_41991dup , LRG_158:g.41988_41991dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3216+140_3216+143dup
ENST00000517337.2:c.1668+140_1668+143dup	ENSP00000429971.2:n.1668+140_1668+143dup
ENST00000523444.2:c.1668+140_1668+143dup	ENSP00000428252.2:n.1668+140_1668+143dup
ENST00000697292.1:c.1914+140_1914+143dup	ENSP00000513229.1:n.1914+140_1914+143dup
ENST00000697293.1:c.1914+140_1914+143dup	ENSP00000513230.1:n.1914+140_1914+143dup
ENST00000697294.1:c.*1525+140_*1525+143dup	ENSP00000513231.1:n.*1525+140_*1525+143dup
ENST00000697295.1:c.*1223+140_*1223+143dup	ENSP00000513232.1:n.*1223+140_*1223+143dup
ENST00000697296.1:c.*1582+140_*1582+143dup	ENSP00000513233.1:n.*1582+140_*1582+143dup
ENST00000697297.1:n.3699+140_3699+143dup
ENST00000697298.1:c.1668+140_1668+143dup	ENSP00000513234.1:n.1668+140_1668+143dup
ENST00000697299.1:c.1668+140_1668+143dup	ENSP00000513235.1:n.1668+140_1668+143dup
ENST00000697300.1:c.*1518+140_*1518+143dup	ENSP00000513236.1:n.*1518+140_*1518+143dup
ENST00000697301.1:c.*1435+140_*1435+143dup	ENSP00000513237.1:n.*1435+140_*1435+143dup
ENST00000697302.1:c.*1435+140_*1435+143dup	ENSP00000513238.1:n.*1435+140_*1435+143dup
ENST00000697303.1:c.*1518+140_*1518+143dup	ENSP00000513239.1:n.*1518+140_*1518+143dup
ENST00000697304.1:c.1602+140_1602+143dup	ENSP00000513240.1:n.1602+140_1602+143dup
ENST00000697306.1:c.*1077_*1080dup	ENSP00000513241.1:n.*1077_*1080dup
ENST00000697307.1:c.1846-4318_1846-4315dup	ENSP00000513242.1:n.1846-4318_1846-4315dup
ENST00000697308.1:c.1846-1389_1846-1386dup	ENSP00000513243.1:n.1846-1389_1846-1386dup
ENST00000697309.1:c.1914+140_1914+143dup	ENSP00000513244.1:n.1914+140_1914+143dup
ENST00000697310.1:c.1914+140_1914+143dup	ENSP00000513245.1:n.1914+140_1914+143dup
ENST00000697311.1:c.1914+140_1914+143dup	ENSP00000513246.1:n.1914+140_1914+143dup
ENST00000697312.1:c.*1312+140_*1312+143dup	ENSP00000513247.1:n.*1312+140_*1312+143dup
ENST00000697313.1:n.2688-12072_2688-12069dup
ENST00000697314.1:n.3636+5560_3636+5563dup
ENST00000697315.1:c.1914+140_1914+143dup	ENSP00000513248.1:n.1914+140_1914+143dup
ENST00000697316.1:n.2035+140_2035+143dup
ENST00000697317.1:n.2005+159_2005+162dup
ENST00000265433.8:c.1914+140_1914+143dup MANE Select	ENSP00000265433.4:n.1914+140_1914+143dup
ENST00000265433.7:c.1914+140_1914+143dup	ENSP00000265433.3:n.1914+140_1914+143dup
ENST00000396252.6:c.*1787+140_*1787+143dup	ENSP00000379551.2:n.*1787+140_*1787+143dup
ENST00000409330.5:c.1668+140_1668+143dup	ENSP00000386924.1:n.1668+140_1668+143dup
ENST00000613033.1:c.180+140_180+143dup	ENSP00000484487.1:n.180+140_180+143dup
NM_001024688.2:c.1668+140_1668+143dup	NP_001019859.1:n.1668+140_1668+143dup
NM_002485.4:c.1914+140_1914+143dup , LRG_158t1:c.1914+140_1914+143dup	NP_002476.2:n.1914+140_1914+143dup
XM_011517044.1:c.1890+140_1890+143dup	XP_011515346.1:n.1890+140_1890+143dup
XM_011517045.1:c.1668+140_1668+143dup	XP_011515347.1:n.1668+140_1668+143dup
XR_928335.1:n.2053+140_2053+143dup
XM_017013460.1:c.1035+140_1035+143dup	XP_016868949.1:n.1035+140_1035+143dup
XM_017013462.2:c.1035+140_1035+143dup	XP_016868951.1:n.1035+140_1035+143dup
XM_024447163.1:c.1668+140_1668+143dup	XP_024302931.1:n.1668+140_1668+143dup
XM_024447164.1:c.1668+140_1668+143dup	XP_024302932.1:n.1668+140_1668+143dup
XM_024447165.1:c.1035+140_1035+143dup	XP_024302933.1:n.1035+140_1035+143dup
NM_002485.5:c.1914+140_1914+143dup MANE Select	NP_002476.2:n.1914+140_1914+143dup
NM_001024688.3:c.1668+140_1668+143dup	NP_001019859.1:n.1668+140_1668+143dup