Canonical Allele Identifier: CA181258688

Gene: NBN

Linked Data

• dbSNP Id: rs1013115930
• MyVariant Identifiers: chr8:g.90966039_90966040insAACAATATTA (hg19) ; chr8:g.89953811_89953812insAACAATATTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953812_89953821dup , CM000670.2:g.89953812_89953821dup	GRCh38
NC_000008.10:g.90966040_90966049dup , CM000670.1:g.90966040_90966049dup	GRCh37
NC_000008.9:g.91035216_91035225dup	NCBI36
NG_008860.1:g.35851_35860dup , LRG_158:g.35851_35860dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2700-130_2700-121dup
ENST00000517337.2:c.1152-130_1152-121dup	ENSP00000429971.2:n.1152-130_1152-121dup
ENST00000523444.2:c.1152-130_1152-121dup	ENSP00000428252.2:n.1152-130_1152-121dup
ENST00000697292.1:c.1398-130_1398-121dup	ENSP00000513229.1:n.1398-130_1398-121dup
ENST00000697293.1:c.1398-130_1398-121dup	ENSP00000513230.1:n.1398-130_1398-121dup
ENST00000697294.1:c.*1009-130_*1009-121dup	ENSP00000513231.1:n.*1009-130_*1009-121dup
ENST00000697295.1:c.*707-130_*707-121dup	ENSP00000513232.1:n.*707-130_*707-121dup
ENST00000697296.1:c.*1066-130_*1066-121dup	ENSP00000513233.1:n.*1066-130_*1066-121dup
ENST00000697297.1:n.3183-130_3183-121dup
ENST00000697298.1:c.1152-130_1152-121dup	ENSP00000513234.1:n.1152-130_1152-121dup
ENST00000697299.1:c.1152-130_1152-121dup	ENSP00000513235.1:n.1152-130_1152-121dup
ENST00000697300.1:c.*1002-130_*1002-121dup	ENSP00000513236.1:n.*1002-130_*1002-121dup
ENST00000697301.1:c.*919-130_*919-121dup	ENSP00000513237.1:n.*919-130_*919-121dup
ENST00000697302.1:c.*919-130_*919-121dup	ENSP00000513238.1:n.*919-130_*919-121dup
ENST00000697303.1:c.*1002-130_*1002-121dup	ENSP00000513239.1:n.*1002-130_*1002-121dup
ENST00000697304.1:c.1086-130_1086-121dup	ENSP00000513240.1:n.1086-130_1086-121dup
ENST00000697306.1:c.*398-130_*398-121dup	ENSP00000513241.1:n.*398-130_*398-121dup
ENST00000697307.1:c.1398-130_1398-121dup	ENSP00000513242.1:n.1398-130_1398-121dup
ENST00000697308.1:c.1398-130_1398-121dup	ENSP00000513243.1:n.1398-130_1398-121dup
ENST00000697309.1:c.1398-130_1398-121dup	ENSP00000513244.1:n.1398-130_1398-121dup
ENST00000697310.1:c.1398-130_1398-121dup	ENSP00000513245.1:n.1398-130_1398-121dup
ENST00000697311.1:c.1398-130_1398-121dup	ENSP00000513246.1:n.1398-130_1398-121dup
ENST00000697312.1:c.*796-130_*796-121dup	ENSP00000513247.1:n.*796-130_*796-121dup
ENST00000697313.1:n.2687+16543_2687+16552dup
ENST00000697314.1:n.3189-130_3189-121dup
ENST00000697315.1:c.1398-130_1398-121dup	ENSP00000513248.1:n.1398-130_1398-121dup
ENST00000697316.1:n.1519-130_1519-121dup
ENST00000697317.1:n.1508-130_1508-121dup
ENST00000697318.1:n.1510-130_1510-121dup
ENST00000265433.8:c.1398-130_1398-121dup MANE Select	ENSP00000265433.4:n.1398-130_1398-121dup
ENST00000265433.7:c.1398-130_1398-121dup	ENSP00000265433.3:n.1398-130_1398-121dup
ENST00000396252.6:c.*1271-130_*1271-121dup	ENSP00000379551.2:n.*1271-130_*1271-121dup
ENST00000409330.5:c.1152-130_1152-121dup	ENSP00000386924.1:n.1152-130_1152-121dup
NM_001024688.2:c.1152-130_1152-121dup	NP_001019859.1:n.1152-130_1152-121dup
NM_002485.4:c.1398-130_1398-121dup , LRG_158t1:c.1398-130_1398-121dup	NP_002476.2:n.1398-130_1398-121dup
XM_011517044.1:c.1374-130_1374-121dup	XP_011515346.1:n.1374-130_1374-121dup
XM_011517045.1:c.1152-130_1152-121dup	XP_011515347.1:n.1152-130_1152-121dup
XM_011517046.1:c.1396-127_1396-118dup	XP_011515348.1:n.1396-127_1396-118dup
XR_928335.1:n.1534-127_1534-118dup
XM_017013460.1:c.519-130_519-121dup	XP_016868949.1:n.519-130_519-121dup
XM_017013462.2:c.519-130_519-121dup	XP_016868951.1:n.519-130_519-121dup
XM_024447163.1:c.1152-130_1152-121dup	XP_024302931.1:n.1152-130_1152-121dup
XM_024447164.1:c.1152-130_1152-121dup	XP_024302932.1:n.1152-130_1152-121dup
XM_024447165.1:c.519-130_519-121dup	XP_024302933.1:n.519-130_519-121dup
NM_002485.5:c.1398-130_1398-121dup MANE Select	NP_002476.2:n.1398-130_1398-121dup
NM_001024688.3:c.1152-130_1152-121dup	NP_001019859.1:n.1152-130_1152-121dup